Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

The genetic diagnosis in inherited optic neuropathies often remains challenging, and the emergence of complex neurological phenotypes that involve optic neuropathy is puzzling. Here we unravel two novel principles of genetic mechanisms in optic neuropathies: deep intronic OPA1 mutations, which expla...

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Detalhes bibliográficos
Principais autores: Bonifert, Tobias, Karle, Kathrin N., Tonagel, Felix, Batra, Marion, Wilhelm, Christian, Theurer, Yvonne, Schoenfeld, Caroline, Kluba, Torsten, Kamenisch, York, Carelli, Valerio, Wolf, Julia, Gonzalez, Michael A., Speziani, Fiorella, Schüle, Rebecca, Züchner, Stephan, Schöls, Ludger, Wissinger, Bernd, Synofzik, Matthis
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4107747/
https://ncbi.nlm.nih.gov/pubmed/24970096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu165
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