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Article

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Nature genetics - 1 May 2002

Hearn Tom, Renforth Glenn L, Spalluto Cosma, Hanley Neil A, Piper Karen, Brickwood Sarah, White Chris, Connolly Vincent, Taylor James F N, Russell-Eggitt Isabelle, Bonneau Dominque, Walker Mark, Wilson David I

Abstract excerpt

Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome translocation (46, XY,t(2;11)(p13;q21)mat) involving the previously implicated critical region. We...

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

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Source

Identifiers

PMID: 11941370
DOI: 10.1038/ng874

Genes

ALMS1

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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