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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome |
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| Authors: | Mnatzakanian Gevork N Lohi Hannes Munteanu Iulia Alfred Simon E Yamada Takahiro MacLeod Patrick J M Jones Julie R Scherer Stephen W Schanen N Carolyn Friez Michael J Vincent John B Minassian Berge A |
| Affiliation: | Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. |
| Abstract: | Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome. |
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