Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity

PURPOSE: To explore the disease locus and causative mutation for autosomal dominant congenital cataracts (ADCC) in a Kuwaiti family. There were seven affected and three unaffected subjects in the family. METHODS: Whole-genome linkage analysis was performed using Gene Chip Human Mapping 250 K Arrays...

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Main Authors: AlFadhli, Suad, Abdelmoaty, Sidky, Al-Hajeri, Amal, Behbehani, Abdulmutalib, Alkuraya, Fowzan
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2012
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3533929/
https://ncbi.nlm.nih.gov/pubmed/23288985
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