| http://purl.uniprot.org/citations/10671065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10671065 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10671065 | http://www.w3.org/2000/01/rdf-schema#comment | "Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique. SSCP analysis followed by DNA sequencing revealed four novel missense mutations: S143F, associated with the 562C-->T polymorphism, C184W, D269V and Y348H. Two novel nonsense mutations were found: Y103X (433C-->A) and Y234X (826C-->G). In two patients two novel minor insertions (42linsA and 499insA) were identified. In one patient a complete IDS deletion was found, extending from locus DXS1185 to locus DXS466)."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co;2-m"xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1098-1004(1998)12:6<433::aid-humu12>3.0.co;2-m"xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Pettersson U."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Pettersson U."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Kleijer W.J."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Kleijer W.J."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Toennesen T."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Toennesen T."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Voskoboeva E."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Voskoboeva E."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Karsten S.L."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Karsten S.L."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Bondeson M.-L."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Bondeson M.-L."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Carlberg B.-M."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/author | "Carlberg B.-M."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/pages | "433"xsd:string |
| http://purl.uniprot.org/citations/10671065 | http://purl.uniprot.org/core/pages | "433"xsd:string |