| http://purl.uniprot.org/citations/2152885 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2152885 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2152885 | http://www.w3.org/2000/01/rdf-schema#comment | "We analyzed a male patient with Fabry's disease who had no activity of the lysosomal hydrolase alpha-galactosidase A (alpha-GalA) and female members of his family. We cloned a cDNA that encoded the mutant alpha-GalA, determined its nucleotide sequence, and found two nucleotide differences between the mutant and the wild-type cDNAs. Although one difference was silent, the other difference, a C-to-T transition at nucleotide number 118, resulted in an amino acid substitution of Pro-40 by Ser. A transient expression assay demonstrated that this missense mutation was the cause of the deficiency of alpha-GalA activity in the patient. In vitro mutagenesis experiments demonstrated that Pro-40 is critical for the appearance of alpha-GalA activity."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.org/dc/terms/identifier | "doi:10.1016/0014-5793(90)80046-l"xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.org/dc/terms/identifier | "doi:10.1016/0014-5793(90)80046-l"xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Koide T."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Koide T."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Inoue M."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Inoue M."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Okada Y."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Okada Y."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Uchida T."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Uchida T."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Iwai K."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Iwai K."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Ishiura M."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Ishiura M."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Kaneda Y."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/author | "Kaneda Y."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/name | "FEBS Lett."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/name | "FEBS Lett."xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/pages | "353-356"xsd:string |
| http://purl.uniprot.org/citations/2152885 | http://purl.uniprot.org/core/pages | "353-356"xsd:string |