Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
    Nat Genet. 2006 Jul;38(7):755-7. Epub 2006 Jun 11.

    Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

    Source

    Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751. evithana@yahoo.co.uk

    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.

    PMID:
    16767101
    [PubMed - indexed for MEDLINE]

      Supplemental Content

      Icon for Nature Publishing Group

      Save items

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk