[Endocrine and metabolic diseases].
Multiple gene mutation inducing common metabolic diseases(diabetes mellitus and hyperlipidemia) and single gene mutation inducing congenital metabolic diseases or inherited endocrine disease are the main targets of DNA diagnosis. We review our current understanding of DNA diagnosis of representative inherited endocrine and metabolic diseases.
Kawakami
Yasushi
Y
Tsukuba University, Institute of Clinical Medicine, Department of Clinical Pathology.
D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D009154:Mutation