Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Neurogenetics

Volumn 9, Issue 1, 2008, Pages 25-31

  Liquori, Christina L ^a   Penco, Silvana ^b   Gault, Judith ^c   Leedom, Tracey P ^a   Tassi, Laura ^b   Esposito, Teresa ^d,e   Awad, Issam A ^f   Frati, Luigi ^e,g   Johnson, Eric W ^h   Squitieri, Ferdinando ^e   Marchuk, Douglas A ^a   Gianfrancesco, Fernando ^d,e  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

^c UNIVERSITY OF COLORADO   (United States)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^e IRCCS NEUROMED   (Italy)

^f NORTHWESTERN UNIVERSITY   (United States)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h Molecular Diagnostics and Biobanking Prevention Genetics   (United States)

Author keywords

CCM probands; Cerebral cavernous malformations; Genomic deletions

Indexed keywords

BRAIN PROTEIN; CEREBRAL CAVERNOUS MALFORMATION 1; CEREBRAL CAVERNOUS MALFORMATION 2; CEREBRAL CAVERNOUS MALFORMATION 3; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MALFORMATION; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENOMICS; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; UNITED STATES;

APOPTOSIS REGULATORY PROTEINS; BASE SEQUENCE; CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; COHORT STUDIES; DNA PRIMERS; EXONS; FOUNDER EFFECT; GENETICS, POPULATION; HAPLOTYPES; HUMANS; ITALY; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; SEQUENCE DELETION; UNITED STATES;

EID: 38649132303     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0109-x     Document Type: Article

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