Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
About this item
Full title
Author / Creator
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 and Ayuso, Carmen
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 (NGS) has been demonstrated to be an effective stra...
Alternative Titles
Full title
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4726392
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4726392
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep19531
