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- Title
Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q.
- Authors
Berry, Vanita; Francis, Peter; Kaushal, Shalesh; Moore, Anthony; Bhattacharya, Shomi
- Abstract
Human inherited cataract is both clinically diverse and genetically heterogeneous. Here we report the identification of the first mutations affecting the major intrinsic protein of the lens, MIP, encoded by the gene MIP on 12q14. MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane.
- Subjects
CATARACT; CRYSTALLINE lens diseases; GENETICS
- Publication
Nature Genetics, 2000, Vol 25, Issue 1, p15
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/75538