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  • Molecular genetic diagnosis of primary immunodeficiencies = Molekularno-genetska diagnostika primarnih imunskih pomanjkljivosti
    Debeljak, Maruša
    A primary immunodeficiency disease is a genetically determined disorder resulting in enhanced susceptibility to infectious diseases. The recent increase in knowledge of the molecular defects ... underlying many immunodeficiences has led to several improvements in their diagnosis and management. DNA-based detection involves different molecular techniques, although DNA sequencing is the usual diagnostic method. Sequencing of the PCR amplified fragments enables precise analyses of the fragments for possible mutations. At the University Children's Hospital in Ljubljana genetic testing for several primary immunodeficiences is performed.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 15, [št.] 1, 2008, str. 40-44)
    Vrsta gradiva - članek, sestavni del
    Leto - 2008
    Jezik - angleški
    COBISS.SI-ID - 24522201

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