Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.
Castaman
G
G
Giacomelli
S H
SH
Duga
S
S
Rodeghiero
F
F
D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005340:Fibrinogen / Q000235:genetics; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
C115499:BBeta fibrinogen; D018389:Codon, Nonsense; D015241:Fibrinogens, Abnormal; D005340:Fibrinogen