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Identifications and in silico analysis of a spectrum of SLC4A11 mutations in Indian familial and non-familial cases of congenital hereditary endothelial dystrophy

2022-05-13

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<title>Abstract</title> <p><bold>Background:</bold> Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal dystrophy and is known to be caused by SLC4A11 gene mutation. The purpose of this study is to find genetic alterations in SLC4A11 using direct sequencing in two Indian familial CHED cases with affected members n=3 and n=2 respectively and five non-familial cases with a single affected m...

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Literature Corpus work
9abb50ac-3a37-5409-9fdf-57638d4d9479
DOI
10.21203/rs.3.rs-1623088/v1
Open publication

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Identifications and in silico analysis of a spectrum of SLC4A11 mutations in Indian familial and non-familial cases of congenital hereditary endothelial dystrophyDOI 10.21203/rs.3.rs-1623088/v1
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