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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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Bibliografski detalji
Glavni autori: Kodaganur, Srinivas Gopinath, Kapoor, Saketh, Veerappa, Avinash M., Tontanahal, Sagar Jagannath, Sarda, Astha, Yathish, S., Prakash, D. Ravi, Kumar, Arun
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3733908/
https://ncbi.nlm.nih.gov/pubmed/23922488
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