Abstract
By definition, inherited diseases are expected to run in families. However, due to the peculiarity of the mode of inheritance of each disease, it is possible that a genetically inherited disease is first detected in a family as an isolated case. Often isolated cases are simply due to chance, in regular segregation of a pathogenic mutation in a given family. Let’s consider for instance a family in which a dominant mutation with reduced penetrance is inherited (Fig.3.1).
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© 2002 Springer Science+Business Media New York
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Danieli, G.A. (2002). Identifying Disease Genes in Humans. In: Genetics and Genomics for the Cardiologist. Basic Science for the Cardiologist, vol 14. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1025-3_3
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DOI: https://doi.org/10.1007/978-1-4615-1025-3_3
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-5357-7
Online ISBN: 978-1-4615-1025-3
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