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Article

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

Molecular vision - 1 Jan 2013

Kodaganur Srinivas Gopinath, Kapoor Saketh, Veerappa Avinash M, Tontanahal Sagar Jagannath, Sarda Astha, Yathish S, Prakash D Ravi, Kumar Arun

Abstract excerpt

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 catalog all known mutations in the SLC4A11 gene. METHODS: Peripheral blood samples were collected from individuals of...

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PMID: 23922488
PMCID: PMC3733908

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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