Concepedia

Protein S–K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients

Rina Kimura, Shigenori Honda, Tomio Kawasaki, Hajime Tsuji, Seiji Madoiwa, Yoichi Sakata, Tetsuhito Kojima, Mitsuru Murata, Kazuhiro Nishigami, Masaaki Chiku,

Blood · 2006 · 106 citations · 11 references

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Abstract

Deep vein thrombosis (DVT) is a multifactorial disease caused by interactions between acquired risk factors and coagulation abnormalities.[1][1] In whites, the factor V–Leiden and the prothrombin-20210G>A are widely recognized as genetic risk factors for DVT. However, these 2 mutations are not

References

11

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

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Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction.

Per Eriksson, Bengt Kallin, Peter Båvenholm et al. · Proceedings of the National Academy of Sciences · 1995 · 744 citations

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Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease

David A. Lane, Peter J. Grant · Blood · 2000 · 491 citations

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

Koichi Kokame, Masanori Matsumoto, Kenji Soejima et al. · Proceedings of the National Academy of Sciences · 2002 · 411 citations

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A Common Genetic Polymorphism (46 C to T Substitution) in the 5′-Untranslated Region of the Coagulation Factor XII Gene Is Associated With Low Translation Efficiency and Decrease in Plasma Factor XII Level

Taisuke Kanaji, Takashi Okamura, Koichi Osaki et al. · Blood · 1998 · 188 citations · Full text

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