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Kate J. Laurie, Alpana Dave, Tania Straga, Emmanuelle Souzeau, Timothy Chataway, Matthew J. Sykes, Theresa Casey, Theodosia Teo, John Pater, Jamie E. Craig, Shiwani Sharma and Kathryn P. Burdon Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family Human Mutation 34

Version of Record online: 17 JAN 2013 | DOI: 10.1002/humu.22260

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A p.R21Q mutation in the alpha-crystallin A gene was shown to segregate with a nuclear lamellar congenital cataract of variable severity in an Australian family. This mutation appears to affect the ability of the CRYAA protein to form the high molecular weight oligomers essential to its chaperone function.

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