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

Saturday, October 1, 2016 - 08:32 in Biology & Nature

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 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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