| http://purl.uniprot.org/citations/12891677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12891677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12891677 | http://www.w3.org/2000/01/rdf-schema#comment | "Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T-type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.10607"xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.10607"xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Ding K."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Ding K."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Chen Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Jiang Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Jiang Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Lu J."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Lu J."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Liu X."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Liu X."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Pan H."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Pan H."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Qiang B."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Qiang B."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Wu H."xsd:string |
| http://purl.uniprot.org/citations/12891677 | http://purl.uniprot.org/core/author | "Wu H."xsd:string |