Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications.
Sheen
Campbell R
CR
Molecular Pathology, Christchurch School of Medicine & Health Sciences, 2 Riccarton Avenue, P. O. Box 4345, Christchurch, New Zealand. campbell.sheen@chmeds.ac.nz
Low
Joyce
J
Joseph
Joanne
J
Kotlyar
Eugene
E
George
Peter M
PM
Brennan
Stephen O
SO
D000347:Afibrinogenemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005192:Family Health; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D009154:Mutation; D013927:Thrombosis / Q000209:etiology*
D015241:Fibrinogens, Abnormal; C518319:fibrinogen Darlinghurst