title: Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.
abstract: Fibrinogen Matsumoto II is a hereditary dysfibrinogenaemia identified in a woman with Basedow's disease and a bleeding tendency. Coagulation tests of the patient's plasma revealed a prolonged thrombin time and a decreased fibrinogen level determined by functional method. Release of fibrinopeptide A and B was normal, whereas fibrin monomer polymerization was delayed. Fibrinogen gamma-chain gene of the propositus was heterozygous for a missense mutation that resulted in Asn-->Lys substitution at codon 308. Though the same amino acid substitution was also attributed to fibrinogen Kyoto I and Bicetre II, fibrinogen Matsumoto II showed different clinical manifestations from them.
authors.affiliation: Division of Clinical Chemistry and Medical Technology, School of Allied Medical Sciences, Shinshu University, Matsumoto, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okumura
authors.forename: K
authors.initials: K
authors.lastname: Furihata
authors.forename: F
authors.initials: F
authors.lastname: Terasawa
authors.forename: S
authors.initials: S
authors.lastname: Ishikawa
authors.forename: I
authors.initials: I
authors.lastname: Ueno
authors.forename: T
authors.initials: T
authors.lastname: Katsuyama
mesh_terms: D000347:Afibrinogenemia / Q000235:genetics*; D001483:Base Sequence; D001778:Blood Coagulation Disorders / Q000235:genetics*; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D006473:Postpartum Hemorrhage / Q000235:genetics; D011247:Pregnancy
chemical_list: D015241:Fibrinogens, Abnormal