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