| http://purl.uniprot.org/citations/8651292 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8651292 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8651292 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progressive deterioration of the glomerular basement membrane and usually associated with progressive hearing loss. We have identified a novel mutation, L1649R, present in 9 of 121 independently ascertained families. Affected males shared the same haplotype of eight polymorphic markers tightly linked to COL4A5, indicating common ancestry. Genealogical studies place the birth of this ancestor >200 years ago. The L1649R mutation is a relatively common cause of Alport syndrome in the western United States, in part because of the rapid growth and migratory expansion of mid-nineteenth-century pioneer populations carrying the gene. L1649R affects a highly conserved residue in the NC1 domain, which is involved in key inter- and intramolecular interactions, but results in a relatively mild disease phenotype. Renal failure in an L1649R male typically occurs in the 4th or 5th decade and precedes the onset of significant hearing loss by approximately 10 years."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Jiang X."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Jiang X."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Stone E.M."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Stone E.M."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Barker D.F."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Barker D.F."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Fain P.R."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Fain P.R."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Pruchno C.J."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Pruchno C.J."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Atkin C.L."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Atkin C.L."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Denison J.C."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Denison J.C."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Gregory M.C."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/author | "Gregory M.C."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/pages | "1157-1165"xsd:string |
| http://purl.uniprot.org/citations/8651292 | http://purl.uniprot.org/core/pages | "1157-1165"xsd:string |