title: [Genetic diagnosis of hereditary coagulation disorders].
abstract: Genomic abnormalities responsible for blood coagulation disorders have been the subject of extensive investigations for the last several years. Application of the methods of molecular biology had markedly increased the faculty of genetic diagnosis. Recently, we performed DNA sequence analysis of 7 families with type I antithrombin deficiency and 2 families with factor VII deficiency by polymerase chain reaction/direct DNA sequencing method. Here, we present the results of our studies. In addition, we address genetic basis of activated protein C resistance and a novel R485K polymorphism of the factor V gene in the Japanese.
authors.affiliation: Department of Clinical and Laboratory Medicine, Toyama Medical and Pharmaceutical University.
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
mesh_terms: D020152:Antithrombin III Deficiency; D001778:Blood Coagulation Disorders / Q000175:diagnosis* / Q000235:genetics*; D005168:Factor VII Deficiency / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA