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

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....

Descripción completa

Detalles Bibliográficos
Autores principales: Kumar, Arun, Bhattacharjee, Soma, Prakash, Durgappa Ravi, Sadanand, Chethan Sitarampur
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2503190/
https://www.ncbi.nlm.nih.gov/pubmed/17262014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2503190/
https://www.ncbi.nlm.nih.gov/pubmed/17262014

Ejemplares similares