CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: A case-control study

International Journal of Molecular Medicine

Volumn 29, Issue 6, 2012, Pages 1113-1120

  D'Angelo, Rosalia ^a   Scimone, Concetta ^a   Rinaldi, Carmela ^a   Trimarchi, Giuseppe ^a   Italiano, Domenico ^b   Bramanti, Placido ^b   Amato, Aldo ^a   Sidoti, Antonina ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b IRCCS CENTRO NEUROLESI BONINO PULEJO   (Italy)

Author keywords

CCM2 polymorphisms and symptoms; Cerebral cavernous malformations and risk; Genetic screening in italian population; Haplotype distribution

Indexed keywords

ISOLEUCINE; THREONINE; VALINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN CAPILLARY; CAVERNOUS HEMANGIOMA; CCM1 GENE; CCM2 GENE; CCM3 GENE; CENTRAL NERVOUS SYSTEM; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; ITALY; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; INFANT; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; RNA SPLICING; SOFTWARE; YOUNG ADULT;

EID: 84860507026     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2012.927     Document Type: Article

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