Ontology highlight
ABSTRACT:
SUBMITTER: Vanita V
PROVIDER: S-EPMC2435161 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
Vanita Vanita V Singh Jai Rup JR Singh Daljit D Varon Raymonda R Sperling Karl K
Molecular vision 20080617
<h4>Purpose</h4>To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract.<h4>Methods</h4>Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA-gammaD-crystallins (CRYGA, CRYGB, CRYGC, and CRYGD), connexin-46 (GJA3), and connexin-50 (GJA8), was performed by bidirectional sequencing of th ...[more]