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Article

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Nature genetics - 1 Aug 1999

Brooks-Wilson A, Marcil M, Clee S M, Zhang L H, Roomp K, van Dam M, Yu L, Brewer C, Collins J A, Molhuizen H O, Loubser O, Ouelette B F, Fichter K, Ashbourne-Excoffon K J, Sensen C W, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein J J, Genest J, Hayden M R

Abstract excerpt

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1). Familial HDL deficiency (FHA) is a more frequent cause of low HDL levels. On the basis of independent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10431236
DOI: 10.1038/11905

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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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