A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A.
Nafa
K
K
Centre de Transfusion Sanguine, CHU Mustapha, Alger, Algérie.
Baudis
M
M
Deburgrave
N
N
Bardin
J M
JM
Sultan
Y
Y
Kaplan
J C
JC
Delpech
M
M
D001120:Arginine; D001483:Base Sequence; D015139:Blotting, Southern; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006147:Guanine; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D013941:Thymine
D003062:Codon; D006147:Guanine; D005169:Factor VIII; D004247:DNA; D001120:Arginine; D007930:Leucine; D013941:Thymine