Article
A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.
Journal of visualized experiments : JoVE - 15 Jun 2011
Julie Gauthier, Hamdan Fadi F, Rouleau Guy A
Abstract excerpt
There are several lines of evidence supporting the role of de novo mutations as a mechanism for common disorders, such as autism and schizophrenia. First, the de novo mutation rate in humans is relatively high, so new mutations are generated at a high frequency in the population. However, de novo mutations have not been reported in most common diseases. Mutations in genes leading to severe diseases where there is...
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