Article
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
Human mutation - 1 Mar 2013
Laurie Kate J, Dave Alpana, Straga Tania, Souzeau Emmanuelle, Chataway Timothy, Sykes Matthew J, Casey Theresa, Teo Theodosia, Pater John, Craig Jamie E, Sharma Shiwani, Burdon Kathryn P
Abstract excerpt
Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin genes known to cause congenital cataract. We identified a novel segregating heterozygous mutation, c.62G>A (p.R21Q), in the CRYΑA gene in one family. Western blotting of proteins freshly...
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