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Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia

Autor: Xin Zhou, Fang Zheng, Chenling Xiong, Junfa Ding, Xiao-huan Cheng

Publikováno v: Molecular Biology Reports. 36:2053-2057

Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal dominantly inherited disease mainly caused by mutations of the gene encoding the low density lipoprotein receptor (LDLR) and Apolipoprotein (Apo) B. First the common mutation R3500Q in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b144e40cf042c5f1243f5aed6035eab
https://doi.org/10.1007/s11033-008-9416-z

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[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]

Autor: Xiao-huan, Cheng, Fang, Zheng, Xin, Zhou, Chen-ling, Xiong, Junfa, Ding, Yong-mei, Chen

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 25(1)

To screen the mutations of the low density lipoprotein receptor (LDLR) gene in a familial hypercholesterolemia (FH) family, and analyze the LDL-uptaking function of LDLR on lymphocytes of patients.Genomic DNA was extracted from four affected members

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3f28089e00ef70a8ebd83b0b623c0271
https://pubmed.ncbi.nlm.nih.gov/18247305

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