Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.
Yamanouchi
Jun
J
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan. yamanouc@m.ehime-u.ac.jp.|Department of Bioregulatory Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, 791-0295, Japan. yamanouc@m.ehime-u.ac.jp.
Hato
Takaaki
T
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Tamura
Tatsushiro
T
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Fujiwara
Hiroshi
H
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Yakushijin
Yoshihiro
Y
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
Yasukawa
Masaki
M
Departments of Bioregulatory Medicine and Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
D000368:Aged; D001798:Blood Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000175:diagnosis / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
D001798:Blood Proteins; C523390:PROS1 protein, human; D017293:Protein S