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Article

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Molecular genetics and metabolism - 1 Nov 2012

Fasano Tommaso, Zanoni Paolo, Rabacchi Claudio, Pisciotta Livia, Favari Elda, Adorni Maria Pia, Deegan Patrick B, Park Adrian, Hlaing Thinn, Feher Michael D, Jones Ben, Uzak Asli Subasioglu, Kardas Fatih, Dardis Andrea, Sechi Annalisa, Bembi Bruno, Minuz Pietro, Bertolini Stefano, Bernini Franco, Calandra Sebastiano

Abstract excerpt

The objective of the study was the characterization of ABCA1 gene mutations in 10 patients with extremely low HDL-cholesterol. Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). Three of them were homozygous...

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Source

Identifiers

PMID: 22959828
DOI: 10.1016/j.ymgme.2012.08.005

Genes

ABCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22959828-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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