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

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in <i>PRPH2</i> 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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Bibliographic Details
Main Authors: Claudia Strafella, Valerio Caputo, Giulia Pagliaroli, Nicola Iozzo, Giulia Campoli, Stefania Carboni, Cristina Peconi, Rosaria Maria Galota, Stefania Zampatti, Giulietta Minozzi, Giuseppe Novelli, Emiliano Giardina, Raffaella Cascella
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:Genes
Subjects:
retinitis pigmentosa
ngs panel
<i>prph2</i>
d2 loop domain
genotype-phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/10/10/792

Internet

https://www.mdpi.com/2073-4425/10/10/792

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