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...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6042724/
https://ncbi.nlm.nih.gov/pubmed/30001348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0200446
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