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Amanda B. Payne, Connie H. Miller, Fiona M. Kelly, J. Michael Soucie and W. Craig Hooper The CDC Hemophilia A Mutation Project (CHAMP) Mutation List: A New Online Resource Human Mutation 34

Version of Record online: 26 DEC 2012 | DOI: 10.1002/humu.22247

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To assist hemophilia A (HA) researchers conducting genotyping analyses, we have developed a listing of Factor VIII gene (F8) mutations. Mutations were reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards. Listings also include the associated HA severity, associations of the mutations with inhibitors, and reference information. The mutation list currently contains 2,537 unique mutations. HA severity caused by the mutation is available for 2,002 mutations (80%) and information on inhibitors is available for 1,795 mutations (71%).

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