Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Nature Genetics

Volumn 23, Issue 2, 1999, Pages 189-193

  Laberge le Couteulx, Sophie ^a   Jung, Hans H ^a   Labauge, Pierre ^a   Houtteville, Jean Pierre ^b   Lescoat, Christelle ^a   Cecillon, Michaelle ^d   Marechal, Emmanuelle ^a   Joutel, Anne ^a,c   Bach, Jean François ^a   Tournier Lasserve, Elisabeth ^a,c  

^a INSERM   (France)

^b CHU CÔTE DE NACRE   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN;

ANGIOGENESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAVERNOUS HEMANGIOMA; CHROMOSOMAL LOCALIZATION; CLINICAL FEATURE; GENE LOCUS; HUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE RAS; PREVALENCE; PRIORITY JOURNAL; PROTEIN INTERACTION; RACE DIFFERENCE; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; CENTRAL NERVOUS SYSTEM NEOPLASMS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HEMANGIOMA, CAVERNOUS; HUMANS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032851217     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/13815     Document Type: Article

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