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Article

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 2008

Hemadevi Boomiraj, Veitia Reiner A, Srinivasan Muthiah, Arunkumar Jambulingam, Prajna Namperumalsamy Venkatesh, Lesaffre Corinne, Sundaresan Periasamy

Abstract excerpt

OBJECTIVE: To identify Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) gene mutations associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED2). METHODS: DNA extraction from blood, polymerase chain reaction amplification, and direct sequencing of all the exons of the SLC4A11 gene were performed for 26 affected members of 20 unrelated families with CHED2....

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PMID: 18474783
DOI: 10.1001/archopht.126.5.700

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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