Article
Clinical impact of molecular diagnostics in endocrinology. Polymorphisms, mutations and DNA technologies.
Hormone research - 1 Jan 2002
Höppner Wolfgang
Abstract excerpt
Genetic defects in genes encoding hormones, hormone receptors or polypeptides of the signaling pathways usually cause complex disease manifestations characterized by the involvement of several tissues and variable expression. Genetic aberrations, like chromosome aneuploidy, gene translocations or mutations in key regulatory proteins (even if not directly affecting genes of the endocrine system) often lead to...
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