Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

PURPOSE: To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract. METHODS: Detailed family history and clinical data were recorded. Linkage analysis using fluorescently labeled microsatellite markers for t...

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Hlavní autoři: Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2009
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2650718/
https://ncbi.nlm.nih.gov/pubmed/19262743
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