A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.
Aguilar-Martinez
P
P
Laboratoire de Biochimie Génétique, INSERM U249/CNRS UPR 9008, Montpellier, France.
Romey
M C
MC
Gris
J C
JC
Schved
J F
JF
Demaille
J
J
Claustres
M
M
D000328:Adult; D001483:Base Sequence; D001665:Binding Sites; D004252:DNA Mutational Analysis; D005164:Factor IX / Q000737:chemistry / Q000235:genetics*; D005602:France; D005796:Genes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D005164:Factor IX