Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature

PURPOSE: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and c...

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Autores principales: Kodaganur, Srinivas Gopinath, Kapoor, Saketh, Veerappa, Avinash M., Tontanahal, Sagar Jagannath, Sarda, Astha, Yathish, S., Prakash, D. Ravi, Kumar, Arun
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733908/
https://ncbi.nlm.nih.gov/pubmed/23922488
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