| http://purl.uniprot.org/citations/10732802 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10732802 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10732802 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron (SMN(T)) gene. Over 90% of SMA patients harbor a deletion of SMN(T), but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMN(T). Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100480050040"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100480050040"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Wang C.H."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Wang C.H."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Bruinsma P."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Bruinsma P."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Day J.K."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Day J.K."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Papendick B.D."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/author | "Papendick B.D."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/name | "Neurogenetics"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/name | "Neurogenetics"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/pages | "273-276"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/pages | "273-276"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/title | "Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/title | "Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy."xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/volume | "1"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://purl.uniprot.org/core/volume | "1"xsd:string |
| http://purl.uniprot.org/citations/10732802 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10732802 |
| http://purl.uniprot.org/citations/10732802 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10732802 |