title: Fibrinogen Barcelona II: a new case of A alpha 16 Arg----His substitution.
abstract: We describe a new congenital dysfibrinogenemia: fibrinogen Barcelona II in 8 members of a family with no major bleeding or thrombotic tendency. Incubation of this fibrinogen with thrombin at low concentration releases half of the expected normal fibrinopeptide A (FPA) and with some delay it releases an abnormal FPA. Abnormal FPA was purified and sequenced and showed a change in the normal amino acid sequence: arginine in position 16 has been substituted by a histidine. This is another case of dysfibrinogenemia in which A alpha 16 Arg----His has been identified as the cause of abnormal behavior of the fibrinogen molecule.
authors.affiliation: Servei d'Hematologia, Hospital de la Sta Creu i Sant Pau, Barcelona, Espanya.
authors.forename: M
authors.initials: M
authors.lastname: Borrell
authors.forename: L
authors.initials: L
authors.lastname: Vila
authors.forename: J
authors.initials: J
authors.lastname: Solá
authors.forename: I
authors.initials: I
authors.lastname: Coll
authors.forename: J
authors.initials: J
authors.lastname: Fontcuberta
mesh_terms: D000595:Amino Acid Sequence; D001778:Blood Coagulation Disorders / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D002851:Chromatography, High Pressure Liquid; D005340:Fibrinogen / Q000378:metabolism*; D015241:Fibrinogens, Abnormal / Q000235:genetics / Q000378:metabolism*; D005344:Fibrinopeptide A / Q000378:metabolism*; D006801:Humans; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree
chemical_list: D015241:Fibrinogens, Abnormal; C063584:fibrinogen Barcelona II; D005344:Fibrinopeptide A; D005340:Fibrinogen