Article
Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.
Human genetics - 1 Oct 2005
Abuhatzira Liron, Makedonski Kirill, Galil Yael Petel, Gak Eva, Ben Zeev Bruria, Razin Aharon, Shemer Ruth
Abstract excerpt
Around 80% of Rett syndrome (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...
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