http://purl.uniprot.org/citations/16222662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/16222662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/16222662 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.30990"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.30990"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Suri M."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Suri M."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Fisher C."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Fisher C."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Reardon W."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Reardon W."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Gibbons R.J."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Gibbons R.J."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Leahy R.T."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Leahy R.T."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Philip R.K."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/author | "Philip R.K."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/pages | "37-39"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/pages | "37-39"xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/title | "Asplenia in ATR-X syndrome: a second report."xsd:string |
http://purl.uniprot.org/citations/16222662 | http://purl.uniprot.org/core/title | "Asplenia in ATR-X syndrome: a second report."xsd:string |