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Article

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

PloS one - 1 Jan 2014

Mondéjar Rufino, Solano Francisca, Rubio Rocío, Delgado Mercedes, Pérez-Sempere Angel, González-Meneses Antonio, Vendrell Teresa, Izquierdo Guillermo, Martinez-Mir Amalia, Lucas Miguel

Abstract excerpt

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 CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic...

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Identifiers

PMID: 24466005
DOI: 10.1371/journal.pone.0086286
PMCID: PMC3900513

Genes

CCM2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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