| http://purl.uniprot.org/citations/27174565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27174565 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27174565 | http://www.w3.org/2000/01/rdf-schema#comment | "Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous mutation of VPS16, we generated mice with targeted mutation site of Vps16 through CRISPR-Cas9 genome-editing approach. Vps16 c.156 C > A homozygous mutant mice exhibited significantly impaired motor function, suggesting that VPS16 is a new causative gene for adolescent-onset primary dystonia."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.org/dc/terms/identifier | "doi:10.1038/srep25834"xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.org/dc/terms/identifier | "doi:10.1038/srep25834"xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Cai Z."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Cai Z."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Cai X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Cai X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "He S."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "He S."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Li Z."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Li Z."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Li W."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Li W."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Liu W."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Liu W."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Wu S."xsd:string |
| http://purl.uniprot.org/citations/27174565 | http://purl.uniprot.org/core/author | "Wu S."xsd:string |