| http://purl.uniprot.org/citations/8875188 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8875188 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8875188 | http://www.w3.org/2000/01/rdf-schema#comment | "The nature of the molecular lesions in the alpha-galactosidase A gene causing Fabry disease in 12 unrelated families from the United Kingdom and 4 from other European countries was determined in order to provide precise heterozygote detection and prenatal diagnosis for these families. The entire alpha-galactosidase A coding region and flanking intronic sequences were analyzed by amplification of genomic DNA and solid-phase direct sequencing or by SSCP analysis followed by solid-phase direct sequencing. Fourteen new mutations were identified including 10 missense mutations (M42V, R49S, C56Y, D92H, D93G, P205T, W236C, W287G, N298H, and W340R), 2 nonsense mutations (Q107X and Q119X) and 2 small deletions (257del18 and 1087del1). Together with the previously reported mutations, a total of 33 lesions in the alpha-galactosidase A gene have been identified in unrelated British families, further documenting the molecular genetic heterogeneity of this disease."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.org/dc/terms/identifier | "doi:10.1159/000472202"xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.org/dc/terms/identifier | "doi:10.1159/000472202"xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Hill J.A."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Hill J.A."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Eng C.M."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Eng C.M."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Davies J.P."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Davies J.P."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Desnick R.J."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Desnick R.J."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "MacDermot K."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "MacDermot K."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Malcolm S."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Malcolm S."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Winchester B.G."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/author | "Winchester B.G."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/pages | "219-224"xsd:string |
| http://purl.uniprot.org/citations/8875188 | http://purl.uniprot.org/core/pages | "219-224"xsd:string |