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Article

[Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].

Sheng li xue bao : [Acta physiologica Sinica] - 25 Oct 2004

Liu Yan-Rong, Tao Qian-Min, Chen Jun-Zhu, Tao Ming, Guo Xiao-Gang, Shang Yun-Peng, Zhu Jian-Hua, Zhang Fu-Rong, Zheng Liang-Rong, Wang Xing-Xiang

Abstract excerpt

Family hypercholesterolemia (FH) is a genetic disorder caused by mutation in the low density lipoprotein receptor (LDLR) gene. It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to tendon xanthenes and premature coronary artery disease. We studied a FH family ,which was diagnosed by clinical features and blood lipid tests. The Total cholesterol level of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15497035

Genes

LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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