Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Autosomal dominant optic atrophy is one of the most common inherited optic neuropathies. This disease is genetically heterogeneous, but most cases are due to pathogenic variants in the OPA1 gene: depending on the population studied, 32–90% of cases harbor pathogenic variants in this gene. The aim of...

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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2021
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8270428/
https://ncbi.nlm.nih.gov/pubmed/34242285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0253987
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