Article
Molecular genetic studies in monogenic and polygenic human diseases.
Acta biologica Hungarica - 1 Jan 1997
Endreffy E, László, Szabó A, Román F, Kürti K, Kálmán M, Raskó I
Abstract excerpt
The main goal of this study was to determine and characterise the types of mutations in two monogenic human disorders: cystic fibrosis (CF) and Duchenne/Becker muscular dystrophy (DMD, BMD) and the susceptibility allele frequency in a polygenic disease: type I insulin-dependent diabetes mellitus (IDDM). After analysing 220 chromosomes for mutations in the CF (Cystic Fibrosis Transmembrane Conductance Regulator =...
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