Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2325-2333

  Sahoo, Trilochan ^a   Johnson, Eric W ^b   Thomas, James W ^c   Kuehl, Peter M ^d   Jones, Thomas L ^a   Dokken, Charles G ^e   Touchman, Jeffrey W ^c   Gallione, Carol J ^a   Lee Lin, Shih Queen ^c   Kosofsky, Barry ^f   Kurth, Janice H ^b   Louis, David N ^f   Mettler, Gabrielle ^g   Morrison, Leslie ^h   Gil Nagel, Antonio ⁱ   Rich, Steven S ^j   Zabramski, Joseph M ^b   Boguski, Mark S ^e   Green, Eric D ^c   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b St Joseph's Mercy Health Center Hot Springs   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e MARSHFIELD CLINIC   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

ⁱ HOSPITAL RUBER INTERNACIONAL   (Spain)

^j WAKE FOREST SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN;

ANGIOGENESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN MALFORMATION; CAUCASIAN; CEREBROVASCULAR MALFORMATION; CHROMOSOME 7Q; ETHNIC GROUP; GENE MUTATION; HAPLOTYPE; HUMAN; INTRACTABLE EPILEPSY; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; STROKE; TUMOR SUPPRESSOR GENE;

EID: 0032695959     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2325     Document Type: Article

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