| Literature DB >> 15034579 |
Gevork N Mnatzakanian1, Hannes Lohi, Iulia Munteanu, Simon E Alfred, Takahiro Yamada, Patrick J M MacLeod, Julie R Jones, Stephen W Scherer, N Carolyn Schanen, Michael J Friez, John B Vincent, Berge A Minassian.
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.Entities:
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Year: 2004 PMID： 15034579 DOI： 10.1038/ng1327
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330