Publications:

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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Journal Of The American Heart Association

Cuchel, Marina M; Lee, Paul C PC; Hudgins, Lisa C LC; Duell, P Barton PB; Ahmad, Zahid Z; Baum, Seth J SJ; Linton, MacRae F MF; de Ferranti, Sarah D SD; Ballantyne, Christie M CM; Larry, John A JA; Hemphill, Linda C LC; Kindt, Iris I; Gidding, Samuel S SS; Martin, Seth S SS; Moriarty, Patrick M PM; Thompson, Paul P PP; Underberg, James A JA; Guyton, John R JR; Andersen, Rolf L RL; Whellan, David J DJ; Benuck, Irwin I; Kane, John P JP; Myers, Kelly K; Howard, William W; Staszak, David D; Jamison, Allison A; Card, Mary C MC; Bourbon, Mafalda M; Chora, Joana R JR; Rader, Daniel J DJ; Knowles, Joshua W JW; Wilemon, Katherine K; McGowan, Mary P MP

Publication Date: 2023-04-29

Variant appearance in text: LDLR: 2043C>A; Cys681Ter

PubMed Link: 37119068

Variant Present in the following documents:

• JAH3-12-e029175.pdf
• JAH3-12-e029175-s001.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 2043C>A; Cys681Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Journal Of Translational Medicine

Gandhi, Geethanjali Devadoss GD; Aamer, Waleed W; Krishnamoorthy, Navaneethakrishnan N; Syed, Najeeb N; Aliyev, Elbay E; Al-Maraghi, Aljazi A; Kohailan, Muhammad M; Alenbawi, Jamil J; Elanbari, Mohammed M; , ; Mifsud, Borbala B; Mokrab, Younes Y; Khalil, Charbel Abi CA; Fakhro, Khalid A KA

Publication Date: 2022-11-03

Variant appearance in text: LDLR: C681X

PubMed Link: 36329474

Variant Present in the following documents:

• 12967_2022_Article_3697.pdf

View BVdb publication page

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Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Arteriosclerosis, Thrombosis, And Vascular Biology

Bruckert, Eric E; Caprio, Sonia S; Wiegman, Albert A; Charng, Min-Ji MJ; Zárate-Morales, Cézar A CA; Baccara-Dinet, Marie T MT; Manvelian, Garen G; Ourliac, Anne A; Scemama, Michel M; Daniels, Stephen R SR

Publication Date: 2022-12

Variant appearance in text: LDLR: 2043C>A; Cys681*

PubMed Link: 36325897

Variant Present in the following documents:

• atv-42-1447-s001.pdf

View BVdb publication page

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: LDLR: Cys681*

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

View BVdb publication page

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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics

Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2022

Variant appearance in text: LDLR: Cys681X

PubMed Link: 36061186

Variant Present in the following documents:

• Main text
• fgene-13-961028.pdf

View BVdb publication page

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Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine

Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X

Publication Date: 2022-03

Variant appearance in text: LDLR: 2043C>A; Cys681*

PubMed Link: 35343078

Variant Present in the following documents:

• CTM2-12-e773-s001.pdf

View BVdb publication page

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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Genes

Bizzari, Sami S; Nair, Pratibha P; Deepthi, Asha A; Hana, Sayeeda S; Al-Ali, Mahmoud Taleb MT; Megarbané, André A; El-Hayek, Stephany S

Publication Date: 2021-09-27

Variant appearance in text: LDLR: Cys681X; rs121908031

PubMed Link: 34680914

Variant Present in the following documents:

• Main text
• genes-12-01518.pdf

View BVdb publication page

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications

Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G

Publication Date: 2021-10-06

Variant appearance in text: LDLR: C681*

PubMed Link: 34615865

Variant Present in the following documents:

• 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: LDLR: 2043C>A; cys681X

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

View BVdb publication page

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Variable and Severe Phenotypic Expression of the "Lebanese Allele" in Two Sisters with Familial Hypercholesterolemia.

Vascular Health And Risk Management

Chahine, Johnny J; Kreykes, Sarah S; Van't Hof, Jeremy R JR; Duprez, Daniel D; Nijjar, Prabhjot P

Publication Date: 2021

Variant appearance in text: LDLR: 2043C>A; cys681X

PubMed Link: 34321884

Variant Present in the following documents:

• Main text
• vhrm-17-415.pdf

View BVdb publication page

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications

Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS

Publication Date: 2021-06-09

Variant appearance in text: LDLR: 2043C>A; Cys681Ter

PubMed Link: 34108472

Variant Present in the following documents:

• 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 2043C>A; Cys681*

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

View BVdb publication page

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Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients.

Orphanet Journal Of Rare Diseases

Víšek, J J; Bláha, M M; Bláha, V V; Lášticová, M M; Lánska, M M; Andrýs, C C; Tebbens, J Duintjer JD; Igreja E Sá, Ivone Cristina IC; Tripská, K K; Vicen, M M; Najmanová, I I; Nachtigal, P P

Publication Date: 2021-02-27

Variant appearance in text: LDLR: Cys681X

PubMed Link: 33640001

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1749.pdf

View BVdb publication page

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: LDLR: C681*

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

View BVdb publication page

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Angiopoietin-like proteins inhibitors: New horizons in the treatment of atherogenic dyslipidemia and familial hypercholesterolemia.

Cardiology Journal

Surma, Stanisław S; Romańczyk, Monika M; Filipiak, Krzysztof J KJ

Publication Date: 2021-01-20

Variant appearance in text: LDLR: Cys681*

PubMed Link: 33470417

Variant Present in the following documents:

• cardj-30-1-131.pdf

View BVdb publication page

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: LDLR: 2043C>A; Cys681Ter; rs121908031

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

View BVdb publication page

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Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics

Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: LDLR: 2043C>A; Cys681Ter; rs121908031

PubMed Link: 33173538

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs121908031

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: LDLR: 2043C>A; C681*

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Actionable Exomic Secondary Findings in 280 Lebanese Participants.

Frontiers In Genetics

Jalkh, Nadine N; Mehawej, Cybel C; Chouery, Eliane E

Publication Date: 2020

Variant appearance in text: LDLR: 2043C>A; C681X

PubMed Link: 32231684

Variant Present in the following documents:

• Main text
• fgene-11-00208.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 2043C>A; Cys681Ter

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association

Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM

Publication Date: 2020-02-04

Variant appearance in text: LDLR: Cys681Ter

PubMed Link: 32009526

Variant Present in the following documents:

• Main text
• JAH3-9-e013808.pdf

View BVdb publication page

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: LDLR: 2043C>A

PubMed Link: 31653860

Variant Present in the following documents:

• 41467_2019_12869_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Arteriosclerosis, Thrombosis, And Vascular Biology

Banerjee, Poulabi P; Chan, Kuo-Chen KC; Tarabocchia, Michel M; Benito-Vicente, Asier A; Alves, Ana C AC; Uribe, Kepa B KB; Bourbon, Mafalda M; Skiba, Paul J PJ; Pordy, Robert R; Gipe, Daniel A DA; Gaudet, Daniel D; Martin, Cesar C

Publication Date: 2019-11

Variant appearance in text: LDLR: 2043C>A; Cys681*

PubMed Link: 31578082

Variant Present in the following documents:

• Main text
• atv-39-2248.pdf

View BVdb publication page

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Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Advances In Therapy

Ben-Omran, Tawfeg T; Masana, Luis L; Kolovou, Genovefa G; Ariceta, Gema G; Nóvoa, F Javier FJ; Lund, Allan M AM; Bogsrud, Martin P MP; Araujo, María M; Hussein, Osamah O; Ibarretxe, Daiana D; Sanchez-Hernández, Rosa M RM; Santos, Raul D RD

Publication Date: 2019-07

Variant appearance in text: LDLR: 2043C>A

PubMed Link: 31102204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Lipids In Health And Disease

Paththinige, C S CS; Rajapakse, J R D K JRDK; Constantine, G R GR; Sem, K P KP; Singaraja, R R RR; Jayasekara, R W RW; Dissanayake, V H W VHW

Publication Date: 2018-05-02

Variant appearance in text: LDLR: Cys681X

PubMed Link: 29720182

Variant Present in the following documents:

• Main text
• 12944_2018_Article_763.pdf

View BVdb publication page

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The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

The Open Cardiovascular Medicine Journal

Alallaf, Faisal F; H Nazar, Fatima Amanullah FA; Alnefaie, Majed M; Almaymuni, Adel A; Rashidi, Omran Mohammed OM; Alhabib, Khalid K; Alnouri, Fahad F; Alama, Mohamed-Nabil MN; Athar, Mohammad M; Awan, Zuhier Z

Publication Date: 2017

Variant appearance in text: LDLR: Cys681X

PubMed Link: 28868092

Variant Present in the following documents:

• Main text
• TOCMJ-11-66.pdf

View BVdb publication page

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Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia.

Cholesterol

Fahed, Akl C AC; Shibbani, Kamel K; Andary, Rabih R RR; Arabi, Mariam T MT; Habib, Robert H RH; Nguyen, Denis D DD; Haddad, Fady F FF; Moubarak, Elie E; Nemer, Georges G; Azar, Sami T ST; Bitar, Fadi F FF

Publication Date: 2017

Variant appearance in text: LDLR: C681X

PubMed Link: 28761763

Variant Present in the following documents:

• Main text
• CHOLESTEROL2017-3685265.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 2043C>A; Cys681Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research

Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA

Publication Date: 2016-12

Variant appearance in text: LDLR: 2043C>A

PubMed Link: 27777316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine

Fahed, Akl C AC; Khalaf, Ruby R; Salloum, Rony R; Andary, Rabih R RR; Safa, Raya R; El-Rassy, Inaam I; Moubarak, Elie E; Azar, Sami T ST; Bitar, Fadi F FF; Nemer, Georges G

Publication Date: 2016-05

Variant appearance in text: LDLR: C681*

PubMed Link: 27247956

Variant Present in the following documents:

• Main text
• MGG3-4-283.pdf

View BVdb publication page

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NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.

Scientific Reports

Abou Hassan, Ossama K OK; Fahed, Akl C AC; Batrawi, Manal M; Arabi, Mariam M; Refaat, Marwan M MM; DePalma, Steven R SR; Seidman, J G JG; Seidman, Christine E CE; Bitar, Fadi F FF; Nemer, Georges M GM

Publication Date: 2015-03-06

Variant appearance in text: LDLR: C681X

PubMed Link: 25742962

Variant Present in the following documents:

• Main text
• srep08848.pdf

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: LDLR: 2043C>A

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg

Snozek, Christine L H CL; Lagerstedt, Susan A SA; Khoo, Teck K TK; Rubenfire, Melvyn M; Isley, William L WL; Train, Laura J LJ; Baudhuin, Linnea M LM

Publication Date: 2009-01

Variant appearance in text: LDLR: C681X

PubMed Link: 18648394

Variant Present in the following documents:

• Main text

View BVdb publication page

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