A standard nomenclature for factor VIII and factor IX gene mutations and associated amino acid alterations. On behalf of the ISTH SSC Subcommittee on Factor VIII and Factor IX.
Peake
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I
Department of Medicine and Pharmacology, University of Sheffield, London, UK.
Tuddenham
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E
D000595:Amino Acid Sequence; D001483:Base Sequence; D007446:Chromosome Inversion; D005164:Factor IX / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005796:Genes; D006467:Hemophilia A / Q000235:genetics; D006801:Humans; D009154:Mutation; D009626:Terminology as Topic; D014960:X Chromosome / Q000648:ultrastructure
D005169:Factor VIII; D005164:Factor IX