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

Vithana, Eranga N; Morgan, Patricio; Sundaresan, Periasamy; Ebenezer, Neil D; Tan, Donald T H; Mohamed, Moin D; Anand, Seema; Khine, Khin O; Venkataraman, Divya; Yong, Victor H K; Salto-Tellez, Manuel; Venkatraman, Anandalakshmi; Guo, Ke; Hemadevi, Boomiraj; Srinivasan, Muthiah; Prajna, Venkatesh; Khine, Myint; Casey, Joseph R; Inglehearn, Chris F; Aung, Tin

Vithana, Eranga N; Morgan, Patricio; Sundaresan, Periasamy; Ebenezer, Neil D; Tan, Donald T H; Mohamed, Moin D; Anand, Seema; Khine, Khin O; Venkataraman, Divya; Yong, Victor H K; Salto-Tellez, Manuel; Venkatraman, Anandalakshmi; Guo, Ke; Hemadevi, Boomiraj; Srinivasan, Muthiah; Prajna, Venkatesh; Khine, Myint; Casey, Joseph R; Inglehearn, Chris F; Aung, Tin.

Affiliation

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

Nat Genet ; 38(7): 755-7, 2006 Jul.

Article in En | MEDLINE | ID: mdl-16767101

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

Search on Google

Add to My VHL

XML

PubMed Links

Database: MEDLINE Main subject: Corneal Dystrophies, Hereditary / Point Mutation / Antiporters / Anion Transport Proteins Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2006 Type: Article

Search on Google

Add to My VHL

XML

PubMed Links