| http://purl.uniprot.org/citations/19206178 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19206178 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19206178 | http://www.w3.org/2000/01/rdf-schema#comment | "Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.32641"xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.32641"xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Butler J."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Butler J."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "McCloskey D.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "McCloskey D.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Pegg A.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Pegg A.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Schwartz C.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Schwartz C.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Garcia-Ortiz J.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Garcia-Ortiz J.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Becerra-Solano L.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Becerra-Solano L.E."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Castaneda-Cisneros G."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Castaneda-Cisneros G."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Sanchez-Corona J."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/author | "Sanchez-Corona J."xsd:string |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19206178 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |