Publications:

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ

Publication Date: 2022-05-01

Variant appearance in text: LDLR: D172E; rs879254557

PubMed Link: 33994402

Variant Present in the following documents:

• jat-29-639.pdf

View BVdb publication page

Identification of amino acid residues in the ligand binding repeats of LDL receptor important for PCSK9 binding.

Journal Of Lipid Research

Deng, Shi-Jun SJ; Alabi, Adekunle A; Gu, Hong-Mei HM; Adijiang, Ayinuer A; Qin, Shucun S; Zhang, Da-Wei DW

Publication Date: 2019-03

Variant appearance in text: LDLR: D172E

PubMed Link: 30617148

Variant Present in the following documents:

• Main text
• jlrM089193.pdf

View BVdb publication page

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 516C>G

PubMed Link: 26608663

Variant Present in the following documents:

View BVdb publication page