| http://purl.uniprot.org/citations/10807542 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10807542 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10807542 | http://www.w3.org/2000/01/rdf-schema#comment | "We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS). Polymerase chain reaction (PCR) disclosed a deletion of part of the DCX gene in one male ILS patient. Single-strand conformational polymorphism analysis and subsequent sequence analysis were carried out in the remaining seven patients. One male ILS patient had a nonsense mutation in exon V, which would result in premature termination of the gene product. One female SCLH patient had a missense mutation in exon IV. Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050204"xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050204"xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Nakamura Y."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Nakamura Y."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Kurahashi H."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Kurahashi H."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Okada S."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Sakamoto M."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Sakamoto M."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Ono J."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/author | "Ono J."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/pages | "167-170"xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/pages | "167-170"xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/title | "Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/title | "Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence."xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/volume | "45"xsd:string |
| http://purl.uniprot.org/citations/10807542 | http://purl.uniprot.org/core/volume | "45"xsd:string |