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Gene Mutations and Disease Expression

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There are currently new findings that indicate that mutations outside of genes can cause disease like in Hirshsprung disease and Multiple Endocrine Neoplasia. Explain how this kind of mutation will alter the expression of a gene, particularly in these two diseases.

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Hi there,

Thanks for letting me work on your post. One kind of mutation could occur in the promoter region of the gene. For example, if the mutations disrupt the promoter region of the RET gene in a way that the RET gene expression level decreases, it may lead to Hirshsprung disease and multiple endocrine neoplasia. Another kind of ...

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