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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Dades bibliogràfiques

Publicat a:	Am J Hum Genet
Autors principals:	Mackay, Donna S., Boskovska, Olivera B., Knopf, Harry L. S., Lampi, Kirsten J., Shiels, Alan
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2002
Matèries:	Report
Accés en línia:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC385100/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12360425/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/344212
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