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Article

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

1 May 2007

Abstract excerpt

BACKGROUND: Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family. METHODS: Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal...

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PMID: 17531125
DOI: 10.1097/00029330-200705010-00015

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