Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): Evidence for a two-hit mechanism of CCM pathogenesis

Human Molecular Genetics

Volumn 18, Issue 5, 2009, Pages 919-930

  Akers, Amy L ^a   Johnson, Eric ^b,d   Steinberg, Gary K ^c   Zabramski, Joseph M ^b   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b BARROW NEUROLOGICAL INSTITUTE   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Aciregenetics LLC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROPEPTIDE; PROTEIN CCM; PROTEIN CCM1; PROTEIN CCM2; UNCLASSIFIED DRUG;

ARTICLE; CELL TYPE; CENTRAL NERVOUS SYSTEM DISEASE; CEREBRAL CAVERNOUS MALFORMATION; DNA SEQUENCE; ENDOTHELIUM CELL; EXON; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOSS; GENE MUTATION; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION;

ALLELES; AMINO ACID SEQUENCE; APOPTOSIS REGULATORY PROTEINS; BASE SEQUENCE; CARRIER PROTEINS; COHORT STUDIES; GERM-LINE MUTATION; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PROTO-ONCOGENE PROTEINS;

EID: 60549102885     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn430     Document Type: Article

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