VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Genska diagnostika hemofilije A = Genetic diagnostics of hemophilia A
    Debeljak, Maruša ; Benedik-Dolničar, Majda ; Strmecki, Lana
    Background. Hemophilia A is a chromosome X-linked bleeding disorder due to mutations in the FVlll gene. There are 163 hemophilia A patients in Slovene registry for Hemophilia. 74 have severe ... hemophilia A and 50% of patients with severe hemophilia A have inversion of intron 22 that is detected using the LD-PCR method. Point mutations are detected by amplification of exons of the factor Vlll gene followed with a direct sequencing technique. Results. In the Slovene population we managed to determine a genetic mutation in 67/163 patients, 36/67 have inversion of intron 22 and another 31/67 have 12 different point mutations in the FVIII gene which cause hemophilia A. Three ofthem are so far found only among Slovene patients. Conclusions. The identification of hemophilia mutations is of great importance for the timely discovery of the hemophilia carriers and the pre-natal diagnostics of hemophilia A.
    Vir: Številka ob 2. kongresu hematologov in transfuziologov Slovenije z mednarodno udeležbo (str. I-155-I-157)
    Vrsta gradiva - prispevek na konferenci
    Leto - 2004
    Jezik - slovenski
    COBISS.SI-ID - 17684185

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    Digitalna knjižnica Slovenije - dLib.si

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