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Article

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

Atherosclerosis - 1 Feb 2004

Pisciotta Livia, Hamilton-Craig Ian, Tarugi Patrizia, Bellocchio Antonella, Fasano Tommaso, Alessandrini Paola, Bon Gabriele Bittolo, Siepi Donatella, Mannarino Elmo, Cattin Luigi, Averna Maurizio, Cefalù Angelo Balassare, Cantafora Alfredo, Calandra Sebastiano, Bertolini Stefano

Abstract excerpt

Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter 1

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Source

Identifiers

PMID: 15019541
DOI: 10.1016/j.atherosclerosis.2003.11.009

Genes

ABCA1

Variants

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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Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.PMID 15019541Read ↗

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Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general populationSemantic proximity Read ↗

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