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Article

A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians.

Atherosclerosis - 1 Mar 2006

Dastani Zari, Dangoisse Carole, Boucher Betsie, Desbiens Katia, Krimbou Larbi, Dufour Robert, Hegele Robert A, Pajukanta Päivi, Engert James C, Genest Jacques, Marcil Michel

Abstract excerpt

The molecular causes of severe high-density lipoprotein cholesterol (HDL-C) deficiency was examined in a group of 54 unrelated French Canadian subjects. The lecithin:cholesterol acyl transferase (LCAT) and apolipoprotein (apo) A-I gene were analyzed in all probands by direct DNA sequencing. While no LCAT mutation was detected, a novel nonsense apoA-I mutation (E136X) was found in 3/54 probands. Genetic analysis...

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Source

Identifiers

PMID: 16023124
DOI: 10.1016/j.atherosclerosis.2005.05.028

Genes

CAD
LCAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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