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Funktionsdiagnostik in Endokrinologie, Diabetologie und Stoffwechsel pp 161–180Cite as

Endokrinologische Indikationen zur Gendiagnostik

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Zusammenfassung

Dieses Kapitel beschreibt die bedeutsamen endokrinologischen Indikationen zur Gendiagnostik. Für die Krankheitsbilder MEN-1, MEN-2, Hämochromatose, MODY-Diabetes und AGS werden die Mutationen beschrieben, funktionell gewertet und in einen Krankheitskontext gesetzt. Der Begriff „genom-orientierte Chirurgie“ ist hier von zunehmender Bedeutung. Seltenere genetische Erkrankungen werden tabellarisch abgehandelt.

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Authors and Affiliations

  1. Klinik und Poliklinik für Innere Medizin III, Universitätsklinikum Gießen und Marburg (UKGM), Standort Gießen, 35392, Gießen, Deutschland

    A. Schäffler

  2. Institut für Biomedizin des Alterns, Friedrich-Alexander-Universität Erlangen-Nürnberg, 90408, Nürnberg, Deutschland

    C. Bollheimer

  3. Abteilung für Innere Medizin, Klinikum Bogen, 94327, Bogen, Deutschland

    R. Büttner

  4. Klinik für Allgemeine Innere Medizin und Geriatrie, Krankenhaus der Barmherzigen Brüder, 93049, Regensburg, Deutschland

    C. Girlich

  5. Institut für Klinische Chemie und Laboratoriumsmedizin, Klinikum der Universität Regensburg, 93042, Regensburg, Deutschland

    C. Aslanidis

  6. Institut für Pathologie, Klinikum der Universität Regensburg, 93042, Regensburg, Deutschland

    W. Dietmaier

  7. Medizinische Klinik und Poliklinik I, Universitätsklinikum Würzburg, 97080, Würzburg, Deutschland

    M. Bala

  8. Abteilung für Innere Medizin, Klinikum Bogen, 94327, Bogen, Deutschland

    V. Guralnik

  9. Klinik und Poliklinik für Innere Medizin III, Universitätsklinikum Gießen und Marburg (UKGM), Standort Gießen, 35392, Gießen, Deutschland

    T. Karrasch

  10. Klinik und Poliklinik für Innere Medizin I, Klinikum der Universität Regensburg, 93042, Regensburg, Deutschland

    S. Schneider

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  1. A. Schäffler
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  2. C. Bollheimer
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Editors and Affiliations

  1. Medizinische Klinik und Poliklinik III, Universitätsklinikum Gießen und Marburg (UKGM), Standort Gießen, Germany

    Andreas Schäffler

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Schäffler, A. et al. (2015). Endokrinologische Indikationen zur Gendiagnostik. In: Schäffler, A. (eds) Funktionsdiagnostik in Endokrinologie, Diabetologie und Stoffwechsel. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-47480-8_15

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  • DOI: https://doi.org/10.1007/978-3-662-47480-8_15

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