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Article

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

Chinese medical journal - 5 Oct 2007

Xie Li, Gong Qi-hua, Xie Zhi-guo, Liang Zong-min, Hu Zheng-mao, Xia Kun, Xia Jia-hui, Yang Yi-feng

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China. Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives. METHODS: After the entire coding sequence and the intron-exon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17935672

Genes

LDLR

Variants

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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