Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

doi:10.1371/journal.pone.0086286

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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...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Apoptosis Regulatory Proteins
Base Sequence
Carrier Proteins
Child
Codon, Nonsense
DNA Mutational Analysis
Gene Frequency
Hemangioma, Cavernous, Central Nervous System
Humans
KRIT1 Protein

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Microtubule-Associated Proteins

Middle Aged

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

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

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-24466005-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.