Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

Proceedings of the National Academy of Sciences of the United States of America

Volumn 99, Issue 18, 2002, Pages 11902-11907

  Kokame, Koichi ^a   Matsumoto, Masanori ^b   Soejima, Kenji ^c   Yagi, Hideo ^b   Ishizashi, Hiromichi ^b   Funato, Masahisa ^d   Tamai, Hiroshi ^d   Konno, Mutsuko ^e   Kamide, Kei ^a   Kawano, Yuhei ^a   Miyata, Toshiyuki ^a   Fujimura, Yoshihiro ^b  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b NARA MEDICAL UNIVERSITY   (Japan)

^c Chemo Sero Therapeutic Research Institute   (Japan)

^d YODOGAWA CHRISTIAN HOSPITAL   (Japan)

^e Sapporo Kosei General Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; METALLOPROTEINASE; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ARTICLE; CONTROLLED STUDY; ENDOTHELIUM CELL; ENZYME ACTIVITY; ENZYME RELEASE; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HELA CELL; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PURIFICATION; PROTEIN SYNTHESIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOTIC THROMBOCYTOPENIC PURPURA; VASCULAR ENDOTHELIUM;

ADAM PROTEINS; BASE SEQUENCE; BLOTTING, WESTERN; DNA PRIMERS; FEMALE; HELA CELLS; HUMANS; HYDROLYSIS; MALE; METALLOENDOPEPTIDASES; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RECOMBINANT PROTEINS; VON WILLEBRAND FACTOR;

PURPURA;

EID: 0037015057     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.172277399     Document Type: Article

References (34)