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Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.
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Analyzing 6211 unique variants in the upgraded interactive FVIII web database reveals novel insights into hemophilia A.
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variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project.
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Key issues in inhibitor management in patients with haemophilia.
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Factor VIII inhibitors: risk factors and methods for prevention and immune modulation.
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A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.
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Blood coagulation factor VIII: An overview.
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Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution.
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The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.
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Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
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The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).
Nucleic Acids Res. 1997 Jan 1;25(1):128-32. doi: 10.1093/nar/25.1.128.
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