| A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. | |
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MedLine Citation:
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PMID: 15034579 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Gevork N Mnatzakanian; 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 |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2004-03-21 |
Journal Detail:
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Title: Nature genetics Volume: 36 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 2004 Apr |
Date Detail:
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Created Date: 2004-03-31 Completed Date: 2004-08-16 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 339-41 Citation Subset: IM |
Affiliation:
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Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/AY541280 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Chromosomal Proteins, Non-Histone* DNA Primers DNA-Binding Proteins / genetics* Humans Methyl-CpG-Binding Protein 2 Molecular Sequence Data Open Reading Frames Protein Isoforms / genetics* Repressor Proteins* Rett Syndrome / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Chromosomal Proteins, Non-Histone; 0/DNA Primers; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Protein Isoforms; 0/Repressor Proteins |
| Comments/Corrections | |
Erratum In:
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Nat Genet. 2004 May;36(5):540 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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