TY  - JOUR
AU  - Mondéjar, Rufino
AU  - Solano, Francisca
AU  - Rubio, Rocío
AU  - Delgado, Mercedes
AU  - Pérez-Sempere, Angel
AU  - González-Meneses, Antonio
AU  - Vendrell, Teresa
AU  - Izquierdo, Guillermo
AU  - Martinez-Mir, Amalia
AU  - Lucas, Miguel
PY  - 2014
DO  - 10.1371/journal.pone.0086286
UR  - http://hdl.handle.net/10668/1790
T2  - PloS one
AB  - OBJECTIVETo study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.METHODSWe analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in...
LA  - en
PB  - Public Library of Science
KW  - Proteínas reguladoras de la apoptosis
KW  - Secuencia de bases
KW  - Proteínas transportadoras
KW  - Análisis de mutaciones del ADN
KW  - Hemangioma cavernoso del sistema nervioso central
KW  - Proteínas protooncogénicas
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged::Aged, 80 and over
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Apoptosis Regulatory Proteins
KW  - Medical Subject Headings::Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Base Sequence
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Messenger::Codon::Codon, Terminator::Codon, Nonsense
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Nervous System Malformations::Central Nervous System Vascular Malformations::Hemangioma, Cavernous, Central Nervous System
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteins::Microtubule Proteins::Microtubule-Associated Proteins
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletion
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
TI  - Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
TY  - research article
ER  -