| http://purl.uniprot.org/citations/7759078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7759078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7759078 | http://www.w3.org/2000/01/rdf-schema#comment | "Five point mutations were identified in unrelated Japanese Fabry disease hemizygotes: three new missense mutations, C142Y (425 G-->A), A156V (467 C-->T), and L166V (496 C-->G) in exon 3; one new splice site mutation at the 3' end of the consensus sequence in exon 4; one previously reported nonsense mutation, W44X (131 G-->A). C142Y expressed 50% of the normal enzyme protein in COS-1 cells, but catalytic activity was not detected. Both A156V and L166V expressed significant amounts of residual enzyme activity (6.7% and 9.8%) and enzyme proteins (10% each), the latter were more thermolabile at neutral pH than at acid pH, in vitro."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00223869"xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00223869"xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Ishii S."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Ishii S."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Kase R."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Kase R."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Suzuki Y."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Kamei S."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Kamei S."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Okumiya T."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/author | "Okumiya T."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/pages | "557-561"xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/pages | "557-561"xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/title | "Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins."xsd:string |
| http://purl.uniprot.org/citations/7759078 | http://purl.uniprot.org/core/title | "Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins."xsd:string |