The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

ABSTRACT: Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutatio

SUBMITTER: Payne AB 

PROVIDER: S-EPMC4519832 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature