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June 1, 2000British Journal of HaematologyOpen Access

Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family

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Authors

RSR. SchwaabBoston Children's HospitalJOJohannes OldenburgUniversity of BonnGKGeoffrey Kemball‐CookRoyal Free London NHS Foundation Trust

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Schwaab et al. (2000) studied this question.

synapsesocial.com/papers/6a7cd85c9e20a1edef3aa6c4https://doi.org/10.1046/j.1365-2141.2000.02021.x
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Also Consider

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  1. 1Diagnostic 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 domain1999 · 67 citations
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  3. 3MUTATIONS IN A SUBGROUP OF PATIENTS WITH MILD HAEMOPHILIA A AND A FAMILIAL DISCREPANCY BETWEEN THE ONE‐STAGE AND TWO‐STAGE FACTOR VIII:C METHODS1996 · 89 citations
  4. 4A Molecular Model for the Triplicated A Domains of Human Factor VIII Based on the Crystal Structure of Human Ceruloplasmin1997 · 199 citations
  5. 5A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg by Gln in the putative factor‐VIII‐binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele1992 · 40 citations