| Literature DB >> 16767101 |
Eranga N Vithana1, Patricio Morgan, Periasamy Sundaresan, Neil D Ebenezer, Donald T H Tan, Moin D Mohamed, Seema Anand, Khin O Khine, Divya Venkataraman, Victor H K Yong, Manuel Salto-Tellez, Anandalakshmi Venkatraman, Ke Guo, Boomiraj Hemadevi, Muthiah Srinivasan, Venkatesh Prajna, Myint Khine, Joseph R Casey, Chris F Inglehearn, Tin Aung.
Abstract
Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.Entities:
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Year: 2006 PMID： 16767101 DOI： 10.1038/ng1824
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330