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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...

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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

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