Biochemical diagnosis of genetic disease.
D004247:DNA / Q000235:genetics; D004798:Enzymes / Q000172:deficiency; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011499:Protein Processing, Post-Translational
D004798:Enzymes; D004247:DNA