An evaluation of genetic causes and environmental risks for bilateral optic atrophy

PURPOSE: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA). DESIGN: Retrospective cohort study. METHODS: 97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA. All...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Chen, Andrew T., Brady, Lauren, Bulman, Dennis E., Sundaram, Arun N. E., Rodriguez, Amadeo R., Margolin, Edward, Waye, John S., Tarnopolsky, Mark A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2019
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6876833/
https://ncbi.nlm.nih.gov/pubmed/31765440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0225656
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg