A nonsense mutation in FGA g.3807C-->T (p.R159X) causes afibrinogenaemia in the homozygous form.

Marchi Cappelletti, R

A nonsense mutation in FGA g.3807C-->T (p.R159X) causes afibrinogenaemia in the homozygous form. [electronic resource] - Acta haematologica 2009 - 216-7 p. digital

Publication Type: Case Reports; Journal Article

1421-9662

10.1159/000220336 doi


Adult
Afibrinogenemia--genetics
Child, Preschool
Codon, Nonsense
Female
Fibrinogen--analysis
Fibrinogens, Abnormal--analysis
Genotype
Humans
Male
Point Mutation
Thrombin Time