| http://purl.uniprot.org/citations/10453743 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10453743 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10453743 | http://www.w3.org/2000/01/rdf-schema#comment | "Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant alleles in each individual. Eight new mutations were identified: C155del, C156ins, G244T, C252T, GAG408ins, G468A, G588A and G1098del. This study demonstrates both the effectiveness of the screening strategy chosen to identify all the mutant alleles and the high degree of allelic heterogeneity in PH1."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050998"xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050998"xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Amoroso A."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Amoroso A."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Crovella S."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Crovella S."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Ferrettini C."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Ferrettini C."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Ferri L."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Ferri L."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Florian F."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Florian F."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Marangella M."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Marangella M."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Mazzola G."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Mazzola G."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Pirulli D."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Pirulli D."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Puzzer D."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/author | "Puzzer D."xsd:string |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10453743 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |