@article{fc8912aabf874f6c9a496df6d5d139fd,
title = "A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome",
abstract = "Rett syndrome is caused by mutations in the gene MECP2 in ∼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.",
author = "Mnatzakanian, {Gevork N.} and Hannes Lohi and Iulia Munteanu and Alfred, {Simon E.} and Takahiro Yamada and MacLeod, {Patrick J.M.} and Jones, {Julie R.} and Scherer, {Stephen W.} and Schanen, {N. Carolyn} and Friez, {Michael J.} and Vincent, {John B.} and Minassian, {Berge A.}",
note = "Funding Information: This work was funded by the Canadian Institutes of Health Research–Neuromuscular Research Partnership. H.L. is supported by the Sigrid Juselius Foundation, Finland. Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",
year = "2004",
month = apr,
doi = "10.1038/ng1327",
language = "English (US)",
volume = "36",
pages = "339--341",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",
}