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Article

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

Human mutation - 1 Sept 2002

Chan Lisa Y S, Lam Ching-Wan, Mak Ying-Tat, Tomlinson Brian, Tsang Man-Woo, Baum Larry, Masarei John R L, Pang Chi-Pui

Abstract excerpt

We screened 160 unrelated Chinese hypertriglyceridemic subjects for sequence alterations in the promoter and the 10 exons of the lipoprotein lipase (LPL) gene. We identified one reported mutation (L252R), one common polymorphism (S447X), and six novel mutations: V181I, C283Y, S298R and S338F (found in single individuals), L252V (in two individuals), and A71T (in three individuals). Screening of family members of...

Topics

Catalysis
China
DNA
DNA Mutational Analysis
Female
Genotype
Humans
Hypertriglyceridemia
Lipids
Lipoprotein Lipase
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 12204001
DOI: 10.1002/humu.9054

Genes

LPL

Variants

Provenance

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