Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) characterized by photoreceptor degeneration. RP is highly heterogeneous both clinically and genetically, which complicates the identification of causative genes and mutations. Targeted next-generation sequencing (...

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Vydáno v:Sci Rep
Hlavní autoři: Perez-Carro, Raquel, Corton, Marta, Sánchez-Navarro, Iker, Zurita, Olga, Sanchez-Bolivar, Noelia, Sánchez-Alcudia, Rocío, Lelieveld, Stefan H., Aller, Elena, Lopez-Martinez, Miguel Angel, López-Molina, Mª Isabel, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Gilissen, Christian, Millan, Jose M, Avila-Fernandez, Almudena, Ayuso, Carmen
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4726392/
https://ncbi.nlm.nih.gov/pubmed/26806561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep19531
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