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Article

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome.

Eye (London, England) - 1 May 2009

Liu L, Dong B, Chen X, Li J, Li Y

Abstract excerpt

PURPOSE: To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome. DESIGN: Observational case report and results of DNA analysis. METHODS: A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as co...

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Source

Identifiers

PMID: 18654604
DOI: 10.1038/eye.2008.235

Genes

ALMS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18654604-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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