MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population.

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  • Additional Information
    • Source:
      Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: Berlin : Springer Verlag
      Original Publication: Berlin, New York, Springer-Verlag.
    • Subject Terms:
      Deoxyribonucleases, Type II Site-Specific* ; Introns* ; Polymorphism, Restriction Fragment Length*; Factor VIII/*genetics; Deoxyribonuclease HpaII ; Humans ; Japan
    • Abstract:
      A novel MspI DNA polymorphic site has been found in intron 22 of the human factor VIII gene. This site is informative almost exclusively in the Japanese population (heterozygosity 0.45) and will be of considerable importance in carrier detection and prenatal diagnosis of hemophilia A in this population.
    • References:
      Nature. 1985 Apr 25-May 1;314(6013):738-40. (PMID: 2986011)
      N Engl J Med. 1985 Oct 3;313(14):842-8. (PMID: 2993888)
      Nucleic Acids Res. 1986 Jun 11;14(11):4535-42. (PMID: 3012474)
      Trends Genet. 1988 Aug;4(8):233-7. (PMID: 3149806)
    • Accession Number:
      9001-27-8 (Factor VIII)
      EC 3.1.21.- (Deoxyribonuclease HpaII)
      EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
    • Publication Date:
      Date Created: 19900111 Date Completed: 19900227 Latest Revision: 20190722
    • Publication Date:
      20221208
    • Accession Number:
      10.1007/BF00208947
    • Accession Number:
      1688823