Article
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
The British journal of ophthalmology - 1 Jan 2004
Burdon K P, Wirth M G, Mackey D A, Russell-Eggitt I M, Craig J E, Elder J E, Dickinson J L, Sale M M
Abstract excerpt
AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. METHODS: 38 families with autosomal dominant or recessive paediatric cataract were examined. Three large families were studied by linkage analysis. Candidate genes at regions providing significant LOD...
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