| http://purl.uniprot.org/citations/27838047 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27838047 | http://www.w3.org/2000/01/rdf-schema#comment | "Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with early-onset Parkinsonism. The aim of this study was to address the genetic contribution of RAB39B in early-onset and familial Parkinson's disease (PD) in a Taiwanese population. Among 466 subjects, we sequenced both the exons and exon-intron boundaries of RAB39B from 235 patients with early-onset PD (age of onset <50 years), 119 probands with familial PD, and 112 ethnicity-matched control subjects. We did not find any coding variants or previously reported mutations, suggesting that RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.neurobiolaging.2016.10.021"xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Lin C.H."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Lin H.H."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Chen M.L."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Wu R.M."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Tai C.H."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/author | "Lin H.I."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/name | "Neurobiol Aging"xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/pages | "169.e3-169.e4"xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/title | "Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort."xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://purl.uniprot.org/core/volume | "50"xsd:string |
| http://purl.uniprot.org/citations/27838047 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27838047 |
| http://purl.uniprot.org/citations/27838047 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27838047 |
| http://purl.uniprot.org/uniprot/#_Q96DA2-mappedCitation-27838047 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27838047 |
| http://purl.uniprot.org/uniprot/Q96DA2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27838047 |