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Article

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

Molecular biology reports - 1 Nov 2009

Cheng Xiaohuan, Ding Junfa, Zheng Fang, Zhou Xin, Xiong Chenling

Abstract excerpt

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 ApoB gene was determined using PCR/RFLP method. Then the LDLR gene was screened for mutations using Touch-down PCR, SSCP and sequencing techniques. Furthermore, the...

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Share to Apolipoproteins B
Share to Cholesterol
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Hyperlipoproteinemia Type II

Share to Polymorphism, Single-Stranded Conformational

Share to Protein Structure, Secondary

Share to Receptors, LDL

Source

Identifiers

PMID: 19020990
DOI: 10.1007/s11033-008-9416-z

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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