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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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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2018
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| Assuntos: | |
| 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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