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Mutations in the Gene, UBE3B, Cause a Rare Genetic Disorder in Children, University of Ulm Study


11/30/2012 7:31:09 AM

This study describes how a combination of sequencing and mouse models were used to identify the gene responsible for a brain developmental disorder seen in four patients. The study also shows that the biology uncovered in the mouse model helps to understand the symptoms in patients.

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