Hebrew University of Jerusalem
A splicing mutation is associated with Rett syndrome
Published in Healthcare Mergers, Acquisitions and Ventures Week, January 14th, 2006
"Around 80% of RS cases have a mutation or deletion within the coding sequence of the MeCP2 gene. The other RS patients remain genetically undiagnosed."
"A significant fraction (10-15%) of disease-causing mutations in humans affect pre-mRNA splicing. Two potential splice mutations were found in the MeCP2 gene in RS patients, however it was not clear whether these mutations in fact interfere with splicing and consequently cause RS," wrote L. Abuhatzira and colleagues, Hebrew University of Jerusalem.
"One such mutation is a deletion of the...
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