Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
| Data(s) |
01/07/2006
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| Resumo |
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. |
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| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/restrictedAccess |
| Fonte |
Vithana , E N , Morgan , P , Sundaresan , P , D. Ebenezer , N , Tan , D T H , Mohamed , M D , Anand , S , Khine , K O , Venkataraman , D , Yong , V H K , Salto-Tellez , M , Venkatraman , A , Guo , K , Hemadevi , B , Srinivasan , M , Prajna , V , Khine , M , Casey , J R , Inglehearn , C F & Aung , T 2006 , ' Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) ' Nature Genetics , vol 38 , no. 7 , pp. 755-757 . DOI: 10.1038/ng1824 |
| Palavras-Chave | #/dk/atira/pure/subjectarea/asjc/1300/1311 #Genetics #/dk/atira/pure/subjectarea/asjc/2700/2716 #Genetics(clinical) |
| Tipo |
article |
