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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
BACKGROUND AND PURPOSE: Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations. When associated with other medical conditions, such as neurofibromatosis type 1, this vasculopathy is frequentl...
Autores principales: | Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042724/ https://www.ncbi.nlm.nih.gov/pubmed/30001348 http://dx.doi.org/10.1371/journal.pone.0200446 |
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