Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya-Reference-Cited by-同舟云学术

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya

Published:2010-10-14 Issue:11 Volume:31 Page:1261-1268
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Riazuddin S. Amer,Vithana Eranga N.,Seet Li-Fong,Liu Yangjian,Al-Saif Amr,Koh Li Wei,Heng Yee Meng,Aung Tin,Meadows Danielle N.,Eghrari Allen O.,Gottsch John D.,Katsanis Nicholas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

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2. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration;Allikmets;Science,1997

3. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation;Bisceglia;Invest Ophthalmol Vis Sci,2005

4. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy;Biswas;Hum Mol Genet,2001

5. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy;Desir;J Med Genet,2007

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