| http://purl.uniprot.org/citations/7627184 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7627184 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7627184 | http://www.w3.org/2000/01/rdf-schema#comment | "Gaucher disease is particularly prevalent among Ashkenazi Jews; thus most studies have been reported on this ethnic group. We present the first data on Spanish patients with Gaucher disease and provide one of the first reports on a fairly well defined, large, non-Jewish population. Eight mutations were analyzed in 35 patients, with different clinical subtypes, by restriction enzyme digestion or allele-specific oligonucleotide (ASO) hybridization, after PCR amplification of genomic DNA. Analysis of the eight mutations allowed identification of 77.2% of the disease alleles, N370S and L444P alone accounting for 70%. Mutation N370S, carried by 31 alleles (44.3%), appeared to be the most prevalent in the Spanish population. The frequency of this mutation and of the N370S/N370S genotype is closer to those described for Ashkenazi Jews than to the frequencies found in other non-Jewish populations. Mutation L444P, the second most abundant mutation, occurred in 25.7% of the disease alleles. Four alleles carrying mutation D409H (5.7%) were detected in patients of different clinical expression and one RecNciI allele in a type I patient. Mutations 84GG, IVS2 + 1, R463C, and RecTL were also screened but were not found in any of our patients."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380050406"xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380050406"xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Balcells S."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Balcells S."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Gonzalez-Duarte R."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Gonzalez-Duarte R."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Vilageliu L."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Vilageliu L."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Chabas A."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Chabas A."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Grinberg D."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Grinberg D."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Cormand B."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Cormand B."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Burguera J.M."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/author | "Burguera J.M."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/pages | "303-309"xsd:string |
| http://purl.uniprot.org/citations/7627184 | http://purl.uniprot.org/core/pages | "303-309"xsd:string |