Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

OBJECTIVE: To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. METHODS: We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of...

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Detalhes bibliográficos
Main Authors: Mondéjar, Rufino, Solano, Francisca, Rubio, Rocío, Delgado, Mercedes, Pérez-Sempere, Ángel, González-Meneses, Antonio, Vendrell, Teresa, Izquierdo, Guillermo, Martinez-Mir, Amalia, Lucas, Miguel
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3900513/
https://ncbi.nlm.nih.gov/pubmed/24466005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0086286
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