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Article

Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease.

Clinica chimica acta; international journal of clinical chemistry - 2 Apr 2010

Bocchi Letizia, Pisciotta Livia, Fasano Tommaso, Candini Chiara, Puntoni Maria Rita, Sampietro Tiziana, Bertolini Stefano, Calandra Sebastiano

Abstract excerpt

BACKGROUND: Mutations in ABCA1 gene are the cause of Tangier disease (TD) and familial high density lipoprotein (HDL) deficiency. Splice site mutations of this gene were reported infrequently. METHODS: ABCA1 gene was sequenced in a TD patient and in subjects with low HDL. The effect of intronic variants on ABCA1 pre-mRNA splicing was studied in COS-1 cells expressing a mutant minigene or in patients' cells....

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Source

Identifiers

PMID: 20093111
DOI: 10.1016/j.cca.2010.01.008

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ABCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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