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Ophthalmic Genetics Volume 33, 2012 - Issue 3
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Research Reports

Identification of the p. R116H mutation in a Chinese Family with Novel Variable Cataract Phenotype: Evidence for a Mutational Hot Spot in αA-Crystallin Gene

Binbin Wang
,
Kai Jie WangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
,
Si Quan ZhuBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
,
Jing Wang
&
Xu Ma
Pages 134-138 | Received 15 Apr 2011, Accepted 30 Oct 2011, Published online: 04 Jan 2012

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