[Abnormality in blood coagulation because of protein S-K196E mutation].
We recently identified protein S-K196E mutation as a genetic risk factor for venous thromboembolism in the Japanese population. The E allele frequency was found to be 0.009. Therefore, a substantial proportion of the Japanese population may be assumed to be carrying the E allele of protein S and is at risk of developing venous thromboembolism.
Miyata
Toshiyuki
T
National Cardiovascular Center, Research Institute, 5-7-1 Fujishirodai, Suita-shi, Osaka 565-8565, Japan.
Okada
Hiromi
H
D000483:Alleles; D000991:Antithrombins; D044466:Asian People; D001777:Blood Coagulation / Q000235:genetics; D050716:Complement C4b-Binding Protein; D042783:Endothelial Cells / Q000502:physiology; D005787:Gene Frequency; D006649:Histocompatibility Antigens; D006801:Humans; D009154:Mutation; D010958:Plasminogen; D011485:Protein Binding; D011486:Protein C / Q000502:physiology; D017293:Protein S / Q000235:genetics* / Q000502:physiology; D012307:Risk Factors; D054556:Venous Thromboembolism / Q000235:genetics*
D000991:Antithrombins; C055609:C4BPA protein, human; D050716:Complement C4b-Binding Protein; D006649:Histocompatibility Antigens; D011486:Protein C; D017293:Protein S; D010958:Plasminogen