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Principles of Human Genetics and Mendelian Inheritance

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Neurometabolic Hereditary Diseases of Adults

Abstract

Every species has a particular series of inherited characteristics (traits), which determines a developmental plan and distinguishes one species from another. Differences between individuals of the same species (variations) are the result of genetic, epigenetic, and/or environmental factors. As the molecular support of heredity of any living organism, genes are transmitted from parents to offspring during the process of reproduction. A gene is the basic physical and functional unit of heredity. The concept of gene was recently redefined as a locatable region of genomic sequence, corresponding to a unit of inheritance, associated with regulatory regions, transcribed regions, and/or other functional sequence regions.

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Author information

Authors and Affiliations

  1. Division of Medical Genetics, University of Versailles, Montigny, France

    Dominique P. Germain M.D., Ph.D. & Iulia E. Jurca-Simina M.D.

  2. Center of Genomic Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania

    Iulia E. Jurca-Simina M.D.

Authors
  1. Dominique P. Germain M.D., Ph.D.
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  2. Iulia E. Jurca-Simina M.D.
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Corresponding author

Correspondence to Dominique P. Germain M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy

    Alessandro P. Burlina

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Germain, D.P., Jurca-Simina, I.E. (2018). Principles of Human Genetics and Mendelian Inheritance. In: Burlina, A. (eds) Neurometabolic Hereditary Diseases of Adults. Springer, Cham. https://doi.org/10.1007/978-3-319-76148-0_1

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  • DOI: https://doi.org/10.1007/978-3-319-76148-0_1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-76146-6

  • Online ISBN: 978-3-319-76148-0

  • eBook Packages: MedicineMedicine (R0)

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