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Article

Tangier disease phenotype diversity in dizygous twin sisters.

Revue neurologique - 1 May 2010

Pichit P, Quillard M, Couvert P, Sénant J, Carrié A, Bittar R, Hannequin D, Guyant-Maréchal L

Abstract excerpt

INTRODUCTION: Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholestero...

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Source

Identifiers

PMID: 20070997
DOI: 10.1016/j.neurol.2009.12.001

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20070997-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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