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Article

Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.

Clinical science (London, England : 1979) - 15 Aug 2017

Minuz Pietro, Meneguzzi Alessandra, Femia Eti Alessandra, Fava Cristiano, Calabria Stefano, Scavone Mariangela, Benati Donatella, Poli Giovanni, Zancanaro Carlo, Calandra Sebastiano, Lucchi Tiziano, Cattaneo Marco

Abstract excerpt

Loss-of-function mutations of the the ATP-binding cassette-1 (ABCA1) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. These disorders are characterized by reduced plasma HDL-cholesterol (HDL-C) and altered efflux of cholesterol from cells. Previous studies in TD patients and ABCA1-/- murine models reported defects in platelet count,...

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Source

Identifiers

PMID: 28634189
DOI: 10.1042/CS20170195

Genes

ABCA1

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