Associated Papers
Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.
Zhao R et al.
Clinical & Experimental Ophthalmology, 2022
Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.
Kalra S et al.
Journal of Atherosclerosis and Thrombosis, 2021
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.
Jin W et al.
Bmc Medical Genetics, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Familial hypercholesterolemia in China half a century: A review of published literature.
Peng J et al.
Atherosclerosis. Supplements, 2019
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Chen P et al.
Frontiers in Physiology, 2019
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang X et al.
Journal of Geriatric Cardiology : Jgc, 2018
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
Dai YF et al.
Yi Chuan = Hereditas, 2011
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.
Taylor A et al.
Clinical Genetics, 2010
[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].
Zakharova FM et al.
Genetika, 2007
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
Zakharova FM et al.
Bmc Medical Genetics, 2005
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