| http://purl.uniprot.org/citations/11238684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11238684 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11238684 | http://www.w3.org/2000/01/rdf-schema#comment | "To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.38.3.171"xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.38.3.171"xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Lyonnet S."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Lyonnet S."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Amiel J."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Amiel J."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Bonnefont J.-P."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Bonnefont J.-P."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Imessaoudene B."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Imessaoudene B."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Lyon G."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Lyon G."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Royer G."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/author | "Royer G."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/11238684 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |