Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy

Abstract Background Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic alterations in SLC4A11, in two Indian familial CHED cases with affected members n = 3 and n = 2 respectively and five spor...

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Bibliographic Details
Main Authors: Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh, Muralidhar Ramappa
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CHED
SLC4A11
Corneal dystrophy
Variations
Online Access:https://doi.org/10.1186/s13023-022-02521-4

Internet

https://doi.org/10.1186/s13023-022-02521-4

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