Cryaa Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
734828	Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.	Litt M, etal., Hum Mol Genet 1998 Mar;7(3):471-4.	Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ... (more) ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.	9467006	1998-02-01