| http://purl.uniprot.org/citations/15565283 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15565283 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15565283 | http://www.w3.org/2000/01/rdf-schema#comment | "Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G-->T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-004-1218-3"xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00439-004-1218-3"xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Chen B."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Chen B."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Cai F."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Cai F."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Jiang H."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Jiang H."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Shen L."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Shen L."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Zhang C."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Zhang C."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Luo W."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Luo W."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Pan Q."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Pan Q."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Liu X.-M."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Liu X.-M."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Xia K."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Xia K."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Dai H.-P."xsd:string |
| http://purl.uniprot.org/citations/15565283 | http://purl.uniprot.org/core/author | "Dai H.-P."xsd:string |