A nonsense mutation in FGA g.3807C-->T (p.R159X) causes afibrinogenaemia in the homozygous form.
Marchi Cappelletti
R
R
Centro de Medicina Experimental, Laboratorio Biología del Desarrollo de la Hemostasia, Instituto Venezolano de Investigaciones Científicas, Caracas, Venezuela. rmarchi@ivic.ve
Tersek
Y
Y
Ruiz-Sáez
A
A
Meyer
M
M
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
D018389:Codon, Nonsense; D015241:Fibrinogens, Abnormal; C464794:fibrinogen Aalpha; D005340:Fibrinogen