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Article

A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

Atherosclerosis - 15 Feb 2001

Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S

Abstract excerpt

The proband is a 50 year-old woman born from a consanguineous marriage. She has been suffering from angina pectoris since the age of 38 and underwent coronary bypass surgery for three-vessel disease at 48. The presence of low plasma levels of total cholesterol and high density lipoprotein (HDL) cholesterol (2.4 and 0.1 mmol/l) and apo AI (<15 mg/dl), associated with corneal lesions and a mild splenomegaly...

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Source

Identifiers

PMID: 11257260
DOI: 10.1016/s0021-9150(00)00587-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.PMID 11257260Read ↗

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A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large familySemantic proximity Read ↗

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.Semantic proximity Read ↗

Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease.Semantic proximity Read ↗

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.Semantic proximity Read ↗

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

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.Semantic proximity Read ↗

Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.Semantic proximity Read ↗

Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.Semantic proximity Read ↗

A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.Semantic proximity Read ↗

A novel ABCA1 mutation in Tangier disease associated with severe premature and rapidly progressive neurodegenerative disorder.Semantic proximity Read ↗

Common and rare ABCA1 variants affecting plasma HDL cholesterol.Semantic proximity Read ↗

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