Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis

Lane, 1996, Inherited thrombophilia: Part 1, Thromb Haemost, 76, 651, 10.1055/s-0038-1650638 Seligsohn, 1997, Thrombophilia as a multigenic disorder, Thromb Haemost, 78, 297, 10.1055/s-0038-1657542 Rosendaal, 1999, Venous thrombosis: a multicausal disease, Lancet, 353, 1167, 10.1016/S0140-6736(98)10266-0 de Frutos, 2007, Molecular basis of protein S deficiency, Thromb Haemost, 98, 543, 10.1160/TH07-03-0199 De Stefano, 1996, Inherited thrombophilia: pathogenesis, clinical syndromes, and management, Blood, 87, 3531, 10.1182/blood.V87.9.3531.bloodjournal8793531 De Stefano, 2002, Screening for inherited thrombophilia: indications and therapeutic implications, Haematologica, 87, 1095 Miyata, 2006, Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation, Int J Hematol, 83, 217, 10.1532/IJH97.A20514 2005, A haplotype map of the human genome, Nature, 437, 1299, 10.1038/nature04226 Kimura, 2006, Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients, Blood, 107, 1737, 10.1182/blood-2005-09-3892 Kinoshita, 2005, Protein S and protein C gene mutations in Japanese deep vein thrombosis patients, Clin Biochem, 38, 908, 10.1016/j.clinbiochem.2005.05.006 Kimura, 2006, Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers, J Thromb Haemost, 4, 2010, 10.1111/j.1538-7836.2006.02071.x Seligsohn, 2001, Genetic susceptibility to venous thrombosis, N Engl J Med, 344, 1222, 10.1056/NEJM200104193441607 Yin, 2007, A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency, Thromb Haemost, 98, 783, 10.1160/TH07-03-0211 Iwaki, 2001, DNA sequence analysis of protein S deficiency-identification of four point mutations in twelve Japanese subjects, Semin Thromb Hemost, 27, 155, 10.1055/s-2001-14075 Kokame, 2002, Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity, Proc Natl Acad Sci U S A, 99, 11902, 10.1073/pnas.172277399 Kimura, 2006, Polymorphisms in vitamin K-dependent -carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population, Int J Hematol, 84, 387, 10.1532/IJH97.06082 Kokubo, 2004, Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population, J Hum Genet, 49, 507, 10.1007/s10038-004-0181-0 Antonarakis, 1998, Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group, Hum Mutat, 11, 13, 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O Miyata, 1998, Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies, Thromb Res, 92, 181, 10.1016/S0049-3848(98)00131-5 Okamoto, 2003, Population-based distribution of plasminogen activity and estimated prevalence and relevance to thrombotic diseases of plasminogen deficiency in the Japanese: the Suita Study, J Thromb Haemost, 1, 2397, 10.1046/j.1538-7836.2003.00419.x Sakata, 2004, Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese, J Thromb Haemost, 2, 528, 10.1111/j.1538-7836.2004.00603.x Sakata, 2004, Prevalence of protein S deficiency in the Japanese general population: the Suita Study, J Thromb Haemost, 2, 1012, 10.1111/j.1538-7836.2004.00742.x Henkens, 1995, Plasma levels of protein S, protein C, and factor X: effects of sex, hormonal state and age, Thromb Haemost, 74, 1271, 10.1055/s-0038-1649925 Miyata, 1996, Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building, Thromb Haemost, 76, 302, 10.1055/s-0038-1650575 Kryukov, 2007, Most rare missense alleles are deleterious in humans: implications for complex disease and association studies, Am J Hum Genet, 80, 727, 10.1086/513473