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

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 sporadic CHE...

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Detalles Bibliográficos
Autores principales: Salman, Mohd, Verma, Anshuman, Chaurasia, Sunita, Prasad, Deeksha, Kannabiran, Chitra, Singh, Vivek, Ramappa, Muralidhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482203/
https://www.ncbi.nlm.nih.gov/pubmed/36115991
http://dx.doi.org/10.1186/s13023-022-02521-4

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