| http://purl.uniprot.org/citations/10203348 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10203348 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10203348 | http://www.w3.org/2000/01/rdf-schema#comment | "A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease. We have sequenced the entire coding region of the gene in 11 families who have a pattern of disease consistent with autosomal dominant inheritance. We found a polymorphism (S18Y) in exon 3, two polymorphisms in the 5' non-coding region, upstream of the transcription start, and an insertion/deletion polymorphism in intron 4. The S18Y allele is present on approximately 20% of chromosomes in a Caucasian population. These changes are, therefore, unlikely to be pathogenic. We conclude that the I93M variant must either be a rare cause of disease or a harmless substitution whose occurrence in the family reflects a chance co-occurrence."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.org/dc/terms/identifier | "doi:10.1097/00001756-199902050-00040"xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.org/dc/terms/identifier | "doi:10.1097/00001756-199902050-00040"xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Wood N."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Wood N."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Adamson J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Adamson J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Baker M."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Baker M."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Lincoln S."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Lincoln S."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Lynch T."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Lynch T."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Vaughan J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Vaughan J."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Gwinn-Hardy K."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Gwinn-Hardy K."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Farrer M."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/author | "Farrer M."xsd:string |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10203348 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |