A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.
Niceta
Marcello
M
Fabiano
Carmelo
C
Sammarco
Pietro
P
Gagliano
Fabio
F
Mancuso
Giacomo
G
D018389:Codon, Nonsense; D005091:Exons; D005164:Factor IX / Q000235:genetics*; D005190:Family; D005260:Female; D005820:Genetic Testing; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011994:Recombinant Proteins / Q000627:therapeutic use
D018389:Codon, Nonsense; D011994:Recombinant Proteins; D005164:Factor IX