title: Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site.
authors.affiliation: Molecular Pathology Laboratory, Christchurch School of Medicine, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Ryan L
authors.initials: RL
authors.lastname: Davis
authors.forename: Michael W
authors.initials: MW
authors.lastname: Mosesson
authors.forename: Irene
authors.initials: I
authors.lastname: Hernandez
authors.forename: Robin
authors.initials: R
authors.lastname: Lowen
authors.forename: Saramma J
authors.initials: SJ
authors.lastname: Alexander
mesh_terms: 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
chemical_list: D015241:Fibrinogens, Abnormal; D002118:Calcium