CCM molecular screening in a diagnosis context: Novel unclassified variants leading to abnormal splicing and importance of large deletions

Neurogenetics

Volumn 14, Issue 2, 2013, Pages 133-141

  Riant, Florence ^a,b,c,d   Cecillon, Michaelle ^a   Saugier Veber, Pascale ^e,f   Tournier Lasserve, Elisabeth ^a,b,c,d  

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

^c Department of Neurology   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e ROUEN UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE ROUEN   (France)

Author keywords

CCM; Cerebral cavernous malformations; KRIT1; MGC4607; PDCD10; Unclassified variants

Indexed keywords

COMPLEMENTARY DNA;

ADULT; ARTICLE; BRAIN HEMORRHAGE; CAVERNOUS HEMANGIOMA; CLEAVED AMPLIFIED POLYMORPHIC SEQUENCE; DNA DETERMINATION; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCREENING TEST; SPLICING DEFECT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MIDDLE AGED; MUTATION; RNA SPLICING; SEQUENCE DELETION; YOUNG ADULT;

EID: 84877732320     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0362-0     Document Type: Article

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