| http://purl.uniprot.org/citations/9105656 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9105656 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9105656 | http://www.w3.org/2000/01/rdf-schema#comment | "We have applied non-radioactive polymerase chain reaction (PCR)-single-stranded conformation polymorphism (SSCP) to the detection of gene mutations causing Fabry disease. Nineteen of 22 known mutations were detected as electrophoretic mobility shifts on PCR-SSCP analysis. Then, DNA from newly diagnosed Japanese patients with the classical form of Fabry disease was subjected to PCR-SSCP analysis, and 4 novel mutations (1 small deletion, 1 nonsense mutation and 2 missense mutations) and 1 neutral polymorphism were identified. Furthermore, identification of an asymptomatic heterozygote and a hemizygote with moderate clinical manifestations was successfully achieved by application of this method to a family with the variant form of Fabry disease. PCR-SSCP is useful for the gene diagnosis of etiologically heterogeneous Fabry disease."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0387-7604(96)00486-x"xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0387-7604(96)00486-x"xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Itoh K."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Itoh K."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Kase R."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Kase R."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Sakuraba H."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Utsumi K."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Utsumi K."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Hayashibe H."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Hayashibe H."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Kamei S."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Kamei S."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Okumiya T."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Okumiya T."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Shimmoto M."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Shimmoto M."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Takata T."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/author | "Takata T."xsd:string |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9105656 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |