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

Laberge-le Couteulx, S; Jung, H H; Labauge, P; Houtteville, J P; Lescoat, C; Cecillon, M; Marechal, E; Joutel, A; Bach, J F; Tournier-Lasserve, E

Laberge-le Couteulx, S; Jung, H H; Labauge, P; Houtteville, J P; Lescoat, C; Cecillon, M; Marechal, E; Joutel, A; Bach, J F; Tournier-Lasserve, E.

Affiliation

Laberge-le Couteulx S; INSERM U25, Faculté de Médecine Necker, 156 Rue de Vaugirard, 75730 Paris Cedex 15, France.

Nat Genet ; 23(2): 189-93, 1999 Oct.

Article in En | MEDLINE | ID: mdl-10508515

Subject(s)

Central Nervous System Neoplasms/genetics; Hemangioma, Cavernous/genetics; Microtubule-Associated Proteins; Proto-Oncogene Proteins/genetics; Amino Acid Sequence; Central Nervous System Neoplasms/pathology; DNA Mutational Analysis; Family Health; Female; Hemangioma, Cavernous/pathology; Humans; KRIT1 Protein; Male; Molecular Sequence Data; Mutagenesis, Insertional; Mutation; Pedigree; Physical Chromosome Mapping; Point Mutation; Polymorphism, Single-Stranded Conformational; Sequence Deletion; Sequence Homology, Amino Acid

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Proto-Oncogene Proteins / Central Nervous System Neoplasms / Hemangioma, Cavernous / Microtubule-Associated Proteins Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1999 Type: Article Affiliation country: France

Search on Google

XML

PubMed Links