Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation.
Brennan
Stephen O
SO
Canterbury Health Laboratories, Christchurch Hospital, Cnr Hagley Ave & Tuam St., Christchurch, New Zealand. Steve.brennan@chmeds.ac.nz
Mosesson
Michael W
MW
Lowen
Robin
R
Frantz
Christopher
C
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
D018389:Codon, Nonsense; D015241:Fibrinogens, Abnormal; C514326:fibrinogen Wilmington; D005337:Fibrin; D005340:Fibrinogen