Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans

Congenital cataracts are an important cause of bilateral visual impairment in infants. In a four-generation family of English descent, we mapped dominant congenital posterior polar cataract to chromosome 11q22-q22.3. The maximum LOD score, 3.92 at recombination fraction 0, was obtained for marker D1...

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Bibliografiska uppgifter
Huvudupphovsmän: Berry, Vanita, Francis, Peter, Reddy, M. Ashwin, Collyer, Dean, Vithana, Eranga, MacKay, Ian, Dawson, Gary, Carey, Alisoun H., Moore, Anthony, Bhattacharya, Shomi S., Quinlan, Roy A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2001
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Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274358/
https://ncbi.nlm.nih.gov/pubmed/11577372
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