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Noncoding mutations disrupt cooperative function of 'gene families' in rare genetic disorder

(Johns Hopkins Medicine) Scientists at Johns Hopkins say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung's disease. The results of their latest study suggest that many patients develop the disease when multiple mutations in gene regulatory sequences of a specific gene combine to destroy the normal cooperative function of a whole network of genes.
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Noncoding Mutations Disrupt Cooperative Function of 'Gene Families' in Rare Genetic Disorder

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Scientists say they are one step closer to understanding the genetic mechanism of a rare, complex, multiple-gene disorder called Hirschsprung's disease. Their results suggest that many patients develop the disease when multiple muta...

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