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http://purl.uniprot.org/citations/16222662http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16222662http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16222662http://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/16222662http://purl.org/dc/terms/identifier"doi:10.1002/ajmg.a.30990"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.org/dc/terms/identifier"doi:10.1002/ajmg.a.30990"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Suri M."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Suri M."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Fisher C."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Fisher C."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Reardon W."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Reardon W."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Gibbons R.J."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Gibbons R.J."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Leahy R.T."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Leahy R.T."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Philip R.K."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/author"Philip R.K."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/name"Am. J. Med. Genet. A"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/name"Am. J. Med. Genet. A"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/pages"37-39"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/pages"37-39"xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/title"Asplenia in ATR-X syndrome: a second report."xsd:string
http://purl.uniprot.org/citations/16222662http://purl.uniprot.org/core/title"Asplenia in ATR-X syndrome: a second report."xsd:string