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

Nature Genetics

Volumn 38, Issue 7, 2006, Pages 755-757

  Vithana, Eranga N ^a,b   Morgan, Patricio ^c   Sundaresan, Periasamy ^d   Ebenezer, Neil D ^e   Tan, Donald T H ^a,b,f   Mohamed, Moin D ^g   Anand, Seema ^g   Khine, Khin O ^h   Venkataraman, Divya ^a   Yong, Victor H K ^a   Salto Tellez, Manuel ⁱ   Venkatraman, Anandalakshmi ^a   Guo, Ke ^j   Hemadevi, Boomiraj ^d   Srinivasan, Muthiah ^d   Prajna, Venkatesh ^d   Khine, Myint ^h   Casey, Joseph R ^c   Inglehearn, Chris F ^g   Aung, Tin ^a,b,f  

^a SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c UNIVERSITY OF ALBERTA   (Canada)

^d ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h Yangon Eye Hospital   (Myanmar)

ⁱ NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^j INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

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Author keywords

[No Author keywords available]

Indexed keywords

COTRANSPORTER; SODIUM BORATE COTRANSPORTER; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL CORNEA DYSTROPHY; CONGENITAL NYSTAGMUS; CORNEA OPACITY; FAMILIAL DISEASE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; IN SITU HYBRIDIZATION; PRIORITY JOURNAL; SLC4A11 GENE;

AMINO ACID SUBSTITUTION; ANION TRANSPORT PROTEINS; ANTIPORTERS; BORATES; CORNEAL DYSTROPHIES, HEREDITARY; FEMALE; FUCHS' ENDOTHELIAL DYSTROPHY; GENES, RECESSIVE; HUMANS; MALE; POINT MUTATION;

EID: 33745544253     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1824     Document Type: Article

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