[Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A].

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  • Additional Information
    • Transliterated Title:
      Identifikácia de novo mutácie v géne pre faktor FVIII:C v rodine pozadujúcej prenatálnu diagnostiku hemofílie A.
    • Source:
      Publisher: AEP Press Country of Publication: Slovakia NLM ID: 0065324 Publication Model: Print Cited Medium: Print ISSN: 0006-9248 (Print) Linking ISSN: 00069248 NLM ISO Abbreviation: Bratisl Lek Listy Subsets: MEDLINE
    • Publication Information:
      Publication: <2001->: Bratislava, Slovakia : AEP Press
      Original Publication: Bratislava : SAP-Slovak Academic Press s.r.o.
    • Subject Terms:
      Mutation* ; Prenatal Diagnosis*; Factor VIII/*genetics ; Hemophilia A/*genetics; Female ; Hemophilia A/diagnosis ; Humans ; Pedigree ; Polymorphism, Restriction Fragment Length ; Pregnancy
    • Abstract:
      Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).
    • Accession Number:
      9001-27-8 (Factor VIII)
    • Publication Date:
      Date Created: 19920901 Date Completed: 19930325 Latest Revision: 20161026
    • Publication Date:
      20240829
    • Accession Number:
      1363217