| http://purl.uniprot.org/citations/1928092 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1928092 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1928092 | http://www.w3.org/2000/01/rdf-schema#comment | "Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as much as 8% of the normal allele's enzyme activity, but the other mutations expressed no detectable enzyme activity. We conclude that the unique clinical manifestations are specifically associated with mutation F, a common two-base substitution, in this disease."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Oshima A."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Oshima A."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Fukuhara Y."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Fukuhara Y."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Shimmoto M."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/author | "Shimmoto M."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/date | "1991"xsd:gYear |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/pages | "1091-1093"xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/pages | "1091-1093"xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/title | "Human beta-galactosidase gene mutations in morquio B disease."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/title | "Human beta-galactosidase gene mutations in morquio B disease."xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/volume | "49"xsd:string |
| http://purl.uniprot.org/citations/1928092 | http://purl.uniprot.org/core/volume | "49"xsd:string |