Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

BACKGROUND: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigm...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghofrani, Mohammad, Yahyaei, Mahin, Brunner, Han G., Cremers, Frans P.M., Movasat, Morteza, Khan, Muhammad Imran, Keramatipour, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute 2017
Materias:
Full Length
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548961/
https://www.ncbi.nlm.nih.gov/pubmed/28460491
http://dx.doi.org/10.18869/acadpub.ibj.21.5.294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548961/
https://www.ncbi.nlm.nih.gov/pubmed/28460491
http://dx.doi.org/10.18869/acadpub.ibj.21.5.294

Ejemplares similares