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Article

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.

Molecular vision - 16 Jan 2007

Kumar Arun, Bhattacharjee Soma, Prakash Durgappa Ravi, Sadanand Chethan Sitarampur

Abstract excerpt

PURPOSE: The autosomal recessive form of congenital hereditary endothelial dystrophy (CHED2) is a rare eye disorder caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12. The purpose of this study was to carry out genetic analysis of CHED2 in two Indian families. METHODS: Blood samples were collected from individuals for genomic DNA isolation. In order to see if these families...

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PMID: 17262014
PMCID: PMC2503190

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Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11.PMID 17262014Read ↗

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