| http://purl.uniprot.org/citations/7866405 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7866405 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7866405 | http://www.w3.org/2000/01/rdf-schema#comment | "We have performed molecular and mutation analyses on 14 unrelated Israeli Hunter families and have identified the IDS mutation in 8 of them. Three unrelated Ashkenazi patients had the same previously reported mutation (1246 C-->T). Based on the haplotypes of the mutation-bearing chromosomes, we concluded that this is a recurrent mutation. In two patients, we identified a deletion spanning exons V-VII. Three novel mutations were observed in different patients: L410P, 717de14, and 244de13. In addition, the silent mutation (562 C-->T) was observed in one patient."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380040406"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380040406"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Bach G."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Bach G."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Abeliovich D."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Abeliovich D."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Ben-Simon-Schiff E."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/author | "Ben-Simon-Schiff E."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/pages | "263-270"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/pages | "263-270"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/title | "Mutation analysis of Jewish Hunter patients in Israel."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/title | "Mutation analysis of Jewish Hunter patients in Israel."xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/7866405 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7866405 |
| http://purl.uniprot.org/citations/7866405 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7866405 |