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lüll Protein C deficiency in a family with thromboembolism and identified gene mutations Hoshi S; Hijikata M; Togashi Y; Aoyagi T; Kono C; Yamada Y; Amano H; Keicho N; Yamaguchi TIntern Med 2007[]; 46 (13): 997-1003Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was previously reported. The other two are C-154T promoter polymorphism (rs1799808 on dbSNP database), the function of which is unknown and Ser99Ser synonymous polymorphism (rs5936). All three mutations were found in a 24-year-old patient with pulmonary thromboembolism and his 54-year-old father who also had pulmonary thromboembolism. C-154T promoter polymorphism (rs1799808 on dbSNP database) and Ser99Ser synonymous polymorphism (rs5936) were found in the patient's mother.|*Genetic Predisposition to Disease[MESH]|*Mutation[MESH]|Adult[MESH]|Follow-Up Studies[MESH]|Heparin/therapeutic use[MESH]|Humans[MESH]|Male[MESH]|Pedigree[MESH]|Polymerase Chain Reaction[MESH]|Protein C Deficiency/complications/*diagnosis/*genetics[MESH]|Protein C/*genetics[MESH]|Pulmonary Embolism/complications/diagnostic imaging/drug therapy/*genetics[MESH]|Risk Assessment[MESH]|Severity of Illness Index[MESH]|Tomography, X-Ray Computed[MESH] |