Abstract
Why would one study regulation of genes in inherited disorders? Aren’t the latter examples of the most simple models of disease: one gene->one protein->one function? If the gene is mutated, the function fails, toxic metabolites accumulate or an essential one is missing, illness results: so everything is explained. If the mutation is not a deletion but permits residual activity, the illness is milder.
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Roels, F. (2003). Why Study Regulation of Genes in Inherited Disorders?. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_1
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