The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan.

Thrombosis and haemostasis

Volumn 107, Issue 5, 2012, Pages 1003-1005

  Taguchi, Fumihiro ^a   Yagi, Hideo ^a   Matsumoto, Masanori ^a   Sadamura, Shingo ^a   Isonishi, Ayami ^a   Soejima, Kenji ^a   Fujimura, Yoshihiro ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN;

BLOOD; CASE REPORT; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HELA CELL; HOMOZYGOTE; HUMAN; JAPAN; LETTER; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PHENOTYPE; PROGNOSIS; RISK ASSESSMENT; RISK FACTOR; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADAM PROTEINS; AGE OF ONSET; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HOMOZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RISK ASSESSMENT; RISK FACTORS; TRANSFECTION;

EID: 84865321198     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-11-0799     Document Type: Letter

References (0)