Publications:

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 1720C>A; R574S

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

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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: Arg574Ser

PubMed Link: 29720182

Variant Present in the following documents:

• Main text
• 12944_2018_Article_763.pdf

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Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus

Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R

Publication Date: 2016

Variant appearance in text: LDLR: 1720C>A; R574S

PubMed Link: 28028493

Variant Present in the following documents:

• Main text
• 40064_2016_Article_3763.pdf

View BVdb publication page