| http://purl.uniprot.org/citations/1376965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1376965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1376965 | http://www.w3.org/2000/01/rdf-schema#comment | "A large kindred with adult-type X-linked Alport syndrome was studied with regard to a defect in the recently described COL4A5 collagen gene. Southern blot analysis with COL4A5 cDNA probes showed loss of a MspI restriction site. Direct sequencing of cDNA amplified from lymphoblast mRNA demonstrated a single-base substitution converting a glycine codon to arginine at position 325 in the alpha 5 chain of type IV collagen. The triple-helical collagenous domain of alpha 5(IV), characterized by a Gly-X-Y repeat sequence, is interrupted 22 times by noncollagenous sequences. The mutation creates an additional interruption in the Gly-X-Y repeat motif, between interruptions 4 and 5. It is interesting that such glycine substitutions inside the COL1A1 or COL1A2 genes have been associated with many cases of osteogenesis imperfecta. This gly325-to-arg substitution presumably alters the triple-helix formation, and, in turn, modifies the ultrastructural and functional characteristics of the type IV collagen network inside the glomerular basement membrane."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gubler M.-C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gubler M.-C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Knebelmann B."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Knebelmann B."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Tryggvason K."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Tryggvason K."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gros F."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gros F."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Deschenes G."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Deschenes G."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gruenfeld J.-P."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Gruenfeld J.-P."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Hors M.-C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/author | "Hors M.-C."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/pages | "135-142"xsd:string |
| http://purl.uniprot.org/citations/1376965 | http://purl.uniprot.org/core/pages | "135-142"xsd:string |