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A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q

Autosomal dominant cataract is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here we have mapped dominant pulverulent cataract to the β-crystallin gene cluster on chromosome 22q11.2. Suggestive evidence of linkage was detect...

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Autori principali: Mackay, Donna S., Boskovska, Olivera B., Knopf, Harry L. S., Lampi, Kirsten J., Shiels, Alan
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2002
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC385100/
https://ncbi.nlm.nih.gov/pubmed/12360425
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