Study of cerebral cavernous malformation in Spain and Portugal: High prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene)

Journal of Neurology

Volumn 254, Issue 3, 2007, Pages 322-326

  Ortiz, Lucía ^a   Costa, Alzenira F ^a   Bellido, María L ^a   Solano, Francisca ^a   García Moreno, Jose M ^a   Gamero, Miguel A ^a   Izquierdo, Guillermo ^a   Chadli, Amal ^a   Falcao, Filipa ^b   Ferro, Jose ^b   Salas, Javier ^c   Álvarez Cermeño, Jose C ^d   Montori, Mariano ^e   Ramos Arroyo, María A ^f   Palomino, Alfredo ^g   Pintado, Elizabeth ^a   Lucas, Miguel ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^f Universidad Pública de Navarra   (Spain)

^g HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

CCM; Cerebral cavernous malformations; KRIT1; MGC4607; PDCD10

Indexed keywords

ANKYRIN; KRIT1 PROTEIN; MGC4607 PROTEIN; PDCD10 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BRAIN MALFORMATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; RADIOLOGICAL PARAMETERS; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; STOP CODON;

CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM NEOPLASMS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; PORTUGAL; SEQUENCE DELETION; SPAIN;

EID: 33947153788     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0359-9     Document Type: Article

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