| http://purl.uniprot.org/citations/15249625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15249625 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15249625 | http://www.w3.org/2000/01/rdf-schema#comment | "The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one of them, corroborating the existence of non-functional SMN1 genes."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000132634.48815.13"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000132634.48815.13"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Baiget M."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Baiget M."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Cusco I."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Cusco I."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Tizzano E.F."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Tizzano E.F."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "del Rio E."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "del Rio E."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Barcelo M.J."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/author | "Barcelo M.J."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/pages | "146-149"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/pages | "146-149"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/title | "Detection of novel mutations in the SMN Tudor domain in type I SMA patients."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/title | "Detection of novel mutations in the SMN Tudor domain in type I SMA patients."xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/volume | "63"xsd:string |
| http://purl.uniprot.org/citations/15249625 | http://purl.uniprot.org/core/volume | "63"xsd:string |