Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn).
Hanss
Michel
M
Chevreaud
Caroline
C
French
Patrick
P
Négrier
Claude
C
de Mazancourt
Philippe
P
D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D001777:Blood Coagulation / Q000235:genetics*; D001780:Blood Coagulation Tests; D004252:DNA Mutational Analysis; D005260:Female; D005340:Fibrinogen / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011487:Protein Conformation
C115499:BBeta fibrinogen; C464794:fibrinogen Aalpha; C027539:fibrinopeptides gamma; D005340:Fibrinogen