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Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD)

PURPOSE: To describe phenotypic characteristics of two pedigrees manifesting early onset crystalline cataract with mutations in the γD-crystallin gene (CRYGD). METHODS: A detailed medical history was obtained from two Caucasian pedigrees manifesting autosomal dominant congenital cataracts. Genomic D...

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Detalhes bibliográficos
Main Authors: VanderVeen, Deborah K., Andrews, Caroline, Nihalani, Bharti R., Engle, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3247172/
https://ncbi.nlm.nih.gov/pubmed/22219628
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