Abstract
Genetic disease in humans is frequent; about 4% of all newborns suffer from an inherited disease or an inherited predisposition to a certain disease. About 4000 Mendelian-inherited traits have been described to date, the vast majority of them being rare. The analysis of these diseases and of the genes involved in the pathophysiology has had little success so far, neither by traditional biochemical methods nor by new reverse genetic approaches. Nevertheless the investigation of these naturally occuring mutations offers a tremendous potential gain of knowledge not only about the etiology of these diseases but also about the normal development and physiology of humans.
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© 1991 Springer-Verlag Berlin Heidelberg
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Reis, A. (1991). PCR in Linkage Analysis of Genetic Diseases. In: Rolfs, A., Schumacher, H.C., Marx, P. (eds) PCR Topics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-75924-6_15
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DOI: https://doi.org/10.1007/978-3-642-75924-6_15
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-52934-7
Online ISBN: 978-3-642-75924-6
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