| http://purl.uniprot.org/citations/9150741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9150741 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9150741 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the basement membrane collagen gene COL4A5 cause the progressive renal glomerular nephropathy and typical hearing loss that occur in X-linked Alport syndrome. Nearly all cases involve distinct mutations, as expected for an X-linked disease that significantly reduces the fitness of affected males. A few exceptional COL4A5 mutations appear to be associated with a reduced disease severity and may account for a significant proportion of late-onset Alport syndrome in populations where a founder effect has occurred. The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050429"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050429"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Barker D.F."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Barker D.F."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Atkin C.L."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Atkin C.L."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Denison J.C."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Denison J.C."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Gregory M.C."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/author | "Gregory M.C."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/pages | "681-684"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/pages | "681-684"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/title | "Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/title | "Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q."xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/volume | "99"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://purl.uniprot.org/core/volume | "99"xsd:string |
| http://purl.uniprot.org/citations/9150741 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9150741 |
| http://purl.uniprot.org/citations/9150741 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9150741 |