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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

OBJECTIVE: To identify genetic differences among siblings with a family history of idiopathic transverse myelitis (ITM). METHODS: We compared whole-exome sequencing (WES) on germline samples from the 2 affected sisters with ITM with 3 of their healthy siblings. RESULTS: The 2 sisters with ITM both h...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Mealy, Maureen A., Nam, Tai-Seung, Pardo, Santiago J., Pardo, Carlos A., Sobreira, Nara L., Avramopoulos, Dimitrios, Valle, David, Burns, Kathleen H., Levy, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5820602/
https://ncbi.nlm.nih.gov/pubmed/29473047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000213
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