Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site.
Brennan
Stephen O
SO
Molecular Pathology Laboratory, Christchurch School of Medicine, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
Davis
Ryan L
RL
Mosesson
Michael W
MW
Hernandez
Irene
I
Lowen
Robin
R
Alexander
Saramma J
SJ
D000328:Adult; D000347:Afibrinogenemia / Q000175:diagnosis / Q000235:genetics*; D001665:Binding Sites / Q000235:genetics; D002118:Calcium / Q000378:metabolism*; D005192:Family Health; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans
D015241:Fibrinogens, Abnormal; D002118:Calcium