| http://purl.uniprot.org/citations/2897363 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2897363 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2897363 | http://www.w3.org/2000/01/rdf-schema#comment | "Skin fibroblasts from two affected members of a family with an autosomal dominant form of mild-moderate osteogenesis imperfecta produced two populations of type I collagen molecules. One population was normal and the other population contained alpha 2(I) chains which had a basic charge shift localized to a peptide from the carboxyl-terminal end of the triple-helical domain. The alpha chains in the abnormal molecules had increased post-translational modification along the entire triple-helical domain but the thermal stability was normal. We isolated a 28-kb BamHI fragment from the normal and mutant COL1A2 alleles from an affected family member. DNA sequence determination demonstrated that a single nucleotide change resulted in an arginine for glycine substitution at triple-helical position 1012, the last triple-helical glycine. These data demonstrate the stringent requirement for maintenance of the Gly-X-Y triplet sequence in type I collagen and suggest that point mutations which disrupt Gly-X-Y in alpha 2(I) produce milder clinical effects than similar mutations in alpha 1(I)."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)68560-6"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)68560-6"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Cohen T."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Cohen T."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Cohn D.H."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Cohn D.H."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Wenstrup R.J."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/author | "Wenstrup R.J."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/date | "1988"xsd:gYear |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/date | "1988"xsd:gYear |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/pages | "7734-7740"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/pages | "7734-7740"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/title | "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/title | "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype."xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/volume | "263"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://purl.uniprot.org/core/volume | "263"xsd:string |
| http://purl.uniprot.org/citations/2897363 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2897363 |
| http://purl.uniprot.org/citations/2897363 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2897363 |