title: Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation.
authors.affiliation: Canterbury Health Laboratories, Christchurch Hospital, Cnr Hagley Ave & Tuam St., Christchurch, New Zealand. Steve.brennan@chmeds.ac.nz
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Michael W
authors.initials: MW
authors.lastname: Mosesson
authors.forename: Robin
authors.initials: R
authors.lastname: Lowen
authors.forename: Christopher
authors.initials: C
authors.lastname: Frantz
mesh_terms: D000293:Adolescent; D000347:Afibrinogenemia / Q000175:diagnosis / Q000209:etiology*; D018389:Codon, Nonsense; D005260:Female; D005337:Fibrin / Q000378:metabolism; D005340:Fibrinogen / Q000096:biosynthesis / Q000235:genetics / Q000302:isolation & purification; D015241:Fibrinogens, Abnormal / Q000096:biosynthesis / Q000235:genetics* / Q000302:isolation & purification; D006470:Hemorrhage / Q000209:etiology; D006801:Humans
chemical_list: D018389:Codon, Nonsense; D015241:Fibrinogens, Abnormal; C514326:fibrinogen Wilmington; D005337:Fibrin; D005340:Fibrinogen