Publications:

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Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Genes

Abdul Murad, Nor Azian NA; Mohammad Noor, Yusuf Y; Mohd Rani, Zam Zureena ZZ; Sulaiman, Siti Aishah SA; Chow, Yock Ping YP; Abdullah, Noraidatulakma N; Ahmad, Norfazilah N; Ismail, Norliza N; Abdul Jalal, Nazihah N; Kamaruddin, Mohd Arman MA; Saperi, Amalia Afzan AA; Jamal, Rahman R

Publication Date: 2023-03-15

Variant appearance in text: rs368708058

PubMed Link: 36980993

Variant Present in the following documents:

• Main text
• genes-14-00721.pdf

View BVdb publication page

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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: 1284C>G; N428K; rs368708058

PubMed Link: 36499307

Variant Present in the following documents:

• Main text
• ijms-23-14971.pdf

View BVdb publication page

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Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates.

Frontiers In Genetics

Rimbert, Antoine A; Daggag, Hinda H; Lansberg, Peter P; Buckley, Adam A; Viel, Martijn M; Kanninga, Roan R; Johansson, Lennart L; Dullaart, Robin P F RPF; Sinke, Richard R; Al Tikriti, Alia A; Kuivenhoven, Jan Albert JA; Barakat, Maha Taysir MT

Publication Date: 2021

Variant appearance in text: LDLR: 1284C>G; Asn428Lys

PubMed Link: 35047021

Variant Present in the following documents:

• Main text
• fgene-12-809256.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: Asn428Lys

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.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: N428K

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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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1284C>G; Asn428Lys

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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