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Article

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2006

Chan Angel On-kei, But Wai-man, Lau Gene Tze-chin, Tse Wing-yee, Shek Chi-chung

Abstract excerpt

BACKGROUND: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene. METHODS: A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia. Mutation in her LPL gene was screened by using polymerase chain reaction and direct DNA sequencing. RESULTS: Homozygous...

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Source

Identifiers

PMID: 16460718
DOI: 10.1016/j.cca.2005.12.020

Genes

LPL

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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