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December 1, 1990ViewOpen Access

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

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Authors

JPJ PattinsonThe Royal Free HospitalDMDS MillarUniversity of PaduaJMJohn H. McVeyUniversity of Surrey

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Pattinson et al. (1990) studied this question.

synapsesocial.com/papers/6a9a2b532e341dca26e42d4chttps://doi.org/10.1182/blood.v76.11.2242.2242
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide1989 · 32 citations
  2. 2Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273.1986 · 44 citations
  3. 3Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.1977 · 1,354 citations
  4. 4Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.1985 · 809 citations
  5. 5Mutations of factor VIII cleavage sites in hemophilia A1988 · 86 citations