Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome sequencing (WES), SNP-array and WES-based homozygosity...

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Detalles Bibliográficos
Autores principales: Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655865/
https://www.ncbi.nlm.nih.gov/pubmed/33173045
http://dx.doi.org/10.1038/s41598-020-75841-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655865/
https://www.ncbi.nlm.nih.gov/pubmed/33173045
http://dx.doi.org/10.1038/s41598-020-75841-9

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