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Nat Genet ; 38(7): 755-7, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16767101

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.


Subject(s)
Anion Transport Proteins/genetics , Antiporters/genetics , Corneal Dystrophies, Hereditary/genetics , Point Mutation , Amino Acid Substitution , Anion Transport Proteins/metabolism , Antiporters/metabolism , Borates/metabolism , Corneal Dystrophies, Hereditary/metabolism , Female , Fuchs' Endothelial Dystrophy/genetics , Fuchs' Endothelial Dystrophy/metabolism , Genes, Recessive , Humans , Male
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