| http://purl.uniprot.org/citations/7951228 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7951228 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7951228 | http://www.w3.org/2000/01/rdf-schema#comment | "A group of 46 European patients with mucopolysaccharidosis type I (MPS I) was screened for mutations of the alpha-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37% and 35% of mutant alleles. Considerable differences were seen in the frequency of these 2 mutations in patients from North Europe (Norway and Finland) and other European countries (mainly The Netherlands and Germany). In Scandinavia, W402X and Q70X account for 17% and 62% of the MPS I alleles, respectively, while in other European countries W402X is about 2.5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/3.6.861"xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/3.6.861"xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Steglich C."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Steglich C."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Beck M."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Beck M."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Gal A."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Gal A."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Kleijer W.J."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Kleijer W.J."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Schwinger E."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Schwinger E."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Scott H.S."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Scott H.S."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Morris C.P."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Morris C.P."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Bunge S."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Bunge S."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Zuther C."xsd:string |
| http://purl.uniprot.org/citations/7951228 | http://purl.uniprot.org/core/author | "Zuther C."xsd:string |