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Article

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.

Investigative ophthalmology & visual science - 1 Sept 2009

Aldahmesh Mohammed A, Khan Arif O, Meyer Brian F, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To determine the extent of allelic, and possibly locus, heterogeneity in congenital hereditary endothelial dystrophy (CHED, MIM 217700) in patients from a highly consanguineous Saudi population. METHODS: Homozygosity was determined at the solute carrier family 4, sodium bicarbonate transporter-like, member 11 (SLC4A11) locus followed by full sequencing of SLC4A11 in 10 patients representing seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19369245
DOI: 10.1167/iovs.08-3006

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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