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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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Autori principali: AlFadhli, Suad, Abdelmoaty, Sidky, Al-Hajeri, Amal, Behbehani, Abdulmutalib, Alkuraya, Fowzan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3533929/
https://ncbi.nlm.nih.gov/pubmed/23288985
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