title: [Molecular genetic and biochemical studies of human inherited diseases].
abstract: The paper gives the results of complex studies of human inherited diseases, which involved reverse genetics for the analysis of mutant genes, biochemical and immunological studies of anomalous proteins, the products of these genes. It describes the main results of the studies which used this complex approach to examining the etiology and pathogenesis of Wilson's disease, alpha 1-antitrypsin deficiency, familial hypercholesterolemia and cystic fibrosis.
authors.forename: V S
authors.initials: VS
authors.lastname: Gaĭtskhoki
mesh_terms: D000818:Animals; D001671:Biochemistry / Q000379:methods; D003550:Cystic Fibrosis / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D007158:Immunologic Techniques; D008967:Molecular Biology / Q000379:methods; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics* / Q000276:immunology / Q000378:metabolism
vernacular_title: Molekuliarno-geneticheskoe i biokhimicheskoe izuchenie nasledstvennykh zabolevaniĭ cheloveka.