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Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya

16 Sept 2010

Abstract excerpt

Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late-onset Fuchs corneal dystrophy (FCD), a common age-related disorder, were also reported to harbor heterozygous mutations at this locus. We therefore tested the hypothesis that SLC4A11 contributes...

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PMID: 20848555
DOI: 10.1002/humu.21356

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Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophyaPMID 20848555Read ↗

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