Publications:

Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: LDLR: C243Y

PubMed Link: 35966514

Variant Present in the following documents:

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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: 728G>A; Cys243Tyr

PubMed Link: 35047021

Variant Present in the following documents:

• Main text
• fgene-12-809256.pdf

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Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.

Frontiers In Genetics

Marusic, Tatiana T; Sustar, Ursa U; Sadiq, Fouzia F; Kotori, Vjosa V; Mlinaric, Matej M; Kovac, Jernej J; Shafi, Saeed S; Khan, Iqbal I; Cevc, Matija M; Trebusak Podkrajsek, Katarina K; Battelino, Tadej T; Groselj, Urh U

Publication Date: 2020

Variant appearance in text: LDLR: Cys243Tyr

PubMed Link: 33093846

Variant Present in the following documents:

• Main text
• fgene-11-572176.pdf

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Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease

Sun, Di D; Zhou, Bing-Yang BY; Li, Sha S; Sun, Ning-Ling NL; Hua, Qi Q; Wu, Shu-Lin SL; Cao, Yun-Shan YS; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Cui, Chuan-Jue CJ; Liu, Geng G; Li, Jian-Jun JJ

Publication Date: 2018-11-06

Variant appearance in text: LDLR: 728G>A; C243Y

PubMed Link: 30400955

Variant Present in the following documents:

• Main text
• 12944_2018_Article_900.pdf

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