Cargando…
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
PURPOSE: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and S...
Autores principales: | Tayebi, Naeimeh, Akinrinade, Oyediran, Khan, Muhammad Imran, Hejazifar, Arash, Dehghani, Alireza, Cremers, Frans P.M., Akhlaghi, Mohammadreza |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375/ https://www.ncbi.nlm.nih.gov/pubmed/30820146 |
Ejemplares similares
-
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
por: Salmaninejad, Arash, et al.
Publicado: (2020) -
Bloom's syndrome in a 12-year-old Iranian girl
por: Tayebi, Naeimeh, et al.
Publicado: (2008) -
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
por: Tracewska, Anna M., et al.
Publicado: (2021) -
Next-Generation Sequencing Applications for Inherited Retinal Diseases
por: Dockery, Adrian, et al.
Publicado: (2021) -
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
por: Ghofrani, Mohammad, et al.
Publicado: (2017)