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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 control subjects. Genomic DNA was extracted from venous blood of all participants. Exons 8, 10, and 16 of the ALMS1 gene...

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Source

Identifiers

PMID: 18654604
DOI: 10.1038/eye.2008.235

Genes

ALMS1

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