[The variability of genetic disease entities and its meaning for diagnosis, therapy and genetic prognosis. I. Genetic basis for the heterogeneity of monogenic hereditary diseases].
D000483:Alleles; D030342:Genetic Diseases, Inborn; D005826:Genetics, Medical; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008764:Methylmalonic Acid / Q000652:urine; D009154:Mutation; D011110:Polymorphism, Genetic
D008764:Methylmalonic Acid
Die Variabilität genetisch bedingter Krankheitsbilder und ihre Bedeutung für Diagnostik, Therapie und Erbprognose. I. Genetische Grundlagen der Heterogenität monogen bedingter Erbkrankheiten