Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 144, Issue 5, 2007, Pages 691-695

  Gianfrancesco, Fernando ^a,b   Cannella, Milena ^b   Martino, Tiziana ^b   Maglione, Vittorio ^b   Esposito, Teresa ^a,b   Innocenzi, Gualtiero ^b   Vitale, Emilia ^c   Liquori, Christina L ^d   Marchuk, Douglas A ^d   Squitieri, Ferdinando ^b  

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

^b IRCCS NEUROMED   (Italy)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Cerebral cavernous malformations; KRIT1; MGC4607

Indexed keywords

AMINO ACID; DNA;

ADOLESCENT; ADULT; ARTICLE; BRAIN HEMANGIOMA; BRAIN HEMORRHAGE; CAVERNOUS HEMANGIOMA; CCM1 GENE; CCM2 GENE; CEREBROVASCULAR MALFORMATION; CHILD; DISEASE ASSOCIATION; DNA DETERMINATION; EXON; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HEADACHE; HUMAN; KRIT1 GENE; LIVER; MALE; MGC4607 GENE; MIGRAINE; NEUROLOGIC DISEASE; PENETRANCE; PRIORITY JOURNAL; RETINA; SEIZURE; SKIN HEMANGIOMA; SPINAL CORD; SYMPTOMATOLOGY; VERTEBRA;

ADULT; BRAIN; CARRIER PROTEINS; FEMALE; GENE EXPRESSION REGULATION; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; ITALY; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; PROTO-ONCOGENE PROTEINS;

EID: 34447560913     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30381     Document Type: Article

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