Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

Advances in next-generation sequencing (NGS) facilitate the diagnosis of genetic disorders. To evaluate its use for the molecular diagnosis of inherited optic neuropathy (ION), a blinding disease caused by the degeneration of retinal ganglion cells, we performed genetic analysis using targeted NGS o...

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Vydáno v:Front Neurol
Hlavní autoři: Charif, Majida, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021
Témata:
Neurology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8027346/
https://ncbi.nlm.nih.gov/pubmed/33841295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.602979
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