Publications:

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Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

International Journal Of Molecular Sciences

Razman, Aimi Zafira AZ; Chua, Yung-An YA; Mohd Kasim, Noor Alicezah NA; Al-Khateeb, Alyaa A; Sheikh Abdul Kadir, Siti Hamimah SH; Jusoh, Siti Azma SA; Nawawi, Hapizah H; ,

Publication Date: 2022-11-29

Variant appearance in text: LDLR: L547V

PubMed Link: 36499307

Variant Present in the following documents:

• Main text
• ijms-23-14971.pdf

View BVdb publication page

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Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report.

Frontiers In Cardiovascular Medicine

Blokhina, Anastasia V AV; Ershova, Alexandra I AI; Meshkov, Alexey N AN; Kiseleva, Anna V AV; Klimushina, Marina V MV; Zharikova, Anastasia A AA; Sotnikova, Evgeniia A EA; Ramensky, Vasily E VE; Drapkina, Oxana M OM

Publication Date: 2022

Variant appearance in text: LDLR: L547V

PubMed Link: 36093134

Variant Present in the following documents:

• fcvm-09-982607.pdf

View BVdb publication page

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Familial hypercholesterolemia in Southeast and East Asia.

American Journal Of Preventive Cardiology

Jackson, Candace L CL; Zordok, Magdi M; Kullo, Iftikhar J IJ

Publication Date: 2021-06

Variant appearance in text: LDLR: L547V

PubMed Link: 34327494

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A

Publication Date: 2021-03-31

Variant appearance in text: LDLR: L547V

PubMed Link: 33807407

Variant Present in the following documents:

• jcm-10-01399.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: L547V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.

Scientific Reports

Benito-Vicente, A A; Siddiqi, H H; Uribe, K B KB; Jebari, S S; Galicia-Garcia, U U; Larrea-Sebal, A A; Stef, M M; Ostolaza, H H; Palacios, L L; Martin, C C

Publication Date: 2018-11-09

Variant appearance in text: LDLR: L547V

PubMed Link: 30413722

Variant Present in the following documents:

• 41598_2018_Article_34715.pdf

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: LDLR: L547V

PubMed Link: 29874871

Variant Present in the following documents:

• ijms-19-01676.pdf

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Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal

Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH

Publication Date: 2018-01

Variant appearance in text: LDLR: L547V

PubMed Link: 29399563

Variant Present in the following documents:

• cmj-54-31.pdf

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Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.

Journal Of Atherosclerosis And Thrombosis

Mabuchi, Hiroshi H

Publication Date: 2017-03-01

Variant appearance in text: LDLR: L547V

PubMed Link: 28179607

Variant Present in the following documents:

• jat-24-189.pdf

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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One

Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2015

Variant appearance in text: LDLR: L547V

PubMed Link: 25962062

Variant Present in the following documents:

• pone.0126706.pdf

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA

Publication Date: 2011-03-19

Variant appearance in text: LDLR: L547V

PubMed Link: 21418584

Variant Present in the following documents:

• Main text
• 1471-2350-12-40.pdf

View BVdb publication page

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