Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort

PURPOSE: To identify the solute carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) mutation spectrum and to perform genotype-phenotype correlations in autosomal recessive Congenital Hereditary Endothelial Dystrophy (CHED2) in North Indian patients. METHODS: Twenty-five patients from...

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Auteurs principaux: Paliwal, Preeti, Sharma, Arundhati, Tandon, Radhika, Sharma, Namrata, Titiyal, Jeewan S., Sen, Seema, Nag, Tapas C., Vajpayee, Rasik B.
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2010
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Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3013067/
https://ncbi.nlm.nih.gov/pubmed/21203343
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