Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations

American Journal of Human Genetics

Volumn 73, Issue 6, 2003, Pages 1459-1464

  Liquori, Christina L ^a   Berg, Michel J ^b   Siegel, Adrian M ^c   Huang, Elizabeth ^a   Zawistowski, Jon S ^a   Stoffer, T'Prien ^d   Verlaan, Dominique ^e   Balogun, Fiyinfolu ^a   Hughes, Lori ^a   Leedom, Tracey P ^a   Plummer, Nicholas W ^a   Cannella, Milena ^f   Maglione, Vittorio ^f   Squitieri, Ferdinando ^f   Johnson, Eric W ^d   Rouleau, Guy A ^e   Ptacek, Louis ^g   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b STRONG MEMORIAL HOSPITAL   (United States)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

^e MONTREAL GENERAL HOSPITAL   (Canada)

^f IRCCS NEUROMED   (Italy)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PHOSPHOTYROSINE; PHOSPHOTYROSINE BINDING PROTEIN; PROTEIN ICAP1ALPHA; PROTEIN KRIT1; PROTEIN MGC4607; UNCLASSIFIED DRUG;

ANGIOGENESIS; ARTICLE; BRAIN DEVELOPMENT; BRAIN HEMORRHAGE; BRAIN MALFORMATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CEREBRAL CAVERNOUS MALFORMATION; CEREBROVASCULAR MALFORMATION; CLINICAL ARTICLE; CONGENITAL BLOOD VESSEL MALFORMATION; DISEASE CLASSIFICATION; FAMILIAL DISEASE; GENE; GENE MUTATION; HEADACHE; HUMAN; HUMAN CELL; HUMAN TISSUE; KRIT1 GENE; MGC4607 GENE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; RECURRENT DISEASE; SEIZURE; SIGNAL TRANSDUCTION; STROKE;

EID: 9144261692     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/380314     Document Type: Article

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