A novel mutation (2409delT) in exon 14 of the factor VIII gene causes severe haemophilia A.
Vidal
F
F
Unitat de Recerca del Centre de Transfusió i Banc de Teixits de Barcelona, Barcelona, Spain.
Farssac
E
E
Altisent
C
C
Puig
L
L
Gallardo
D
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data
D003062:Codon; D005169:Factor VIII