title: A nonsense mutation in FGA g.3807C-->T (p.R159X) causes afibrinogenaemia in the homozygous form.
authors.affiliation: Centro de Medicina Experimental, Laboratorio Biología del Desarrollo de la Hemostasia, Instituto Venezolano de Investigaciones Científicas, Caracas, Venezuela. rmarchi@ivic.ve
authors.forename: R
authors.initials: R
authors.lastname: Marchi Cappelletti
authors.forename: Y
authors.initials: Y
authors.lastname: Tersek
authors.forename: A
authors.initials: A
authors.lastname: Ruiz-Sáez
authors.forename: M
authors.initials: M
authors.lastname: Meyer
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D005340:Fibrinogen / Q000032:analysis / Q000235:genetics*; D015241:Fibrinogens, Abnormal / Q000032:analysis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D017354:Point Mutation; D013918:Thrombin Time
chemical_list: D018389:Codon, Nonsense; D015241:Fibrinogens, Abnormal; C464794:fibrinogen Aalpha; D005340:Fibrinogen