NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

This work describes the application of NGS for molecular diagnosis of RP in a family with a history of severe hypovision. In particular, the proband received a clinical diagnosis of RP on the basis of medical, instrumental examinations and his family history. The proband was subjected to NGS, utiliz...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Strafella, Claudia, Caputo, Valerio, Pagliaroli, Giulia, Iozzo, Nicola, Campoli, Giulia, Carboni, Stefania, Peconi, Cristina, Galota, Rosaria Maria, Zampatti, Stefania, Minozzi, Giulietta, Novelli, Giuseppe, Giardina, Emiliano, Cascella, Raffaella
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826621/
https://ncbi.nlm.nih.gov/pubmed/31614793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10100792
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