| http://purl.uniprot.org/citations/7860070 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7860070 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7860070 | http://www.w3.org/2000/01/rdf-schema#comment | "In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of osteogenesis imperfecta for mutations which might result in the phenotype. Single-strand conformation polymorphism mapping analysis was used to identify a region suspected of harbouring the mutation and subsequent sequence analysis revealed a heterozygous G to A transition in the alpha 2(I) gene of type I collagen in the individual. The resulting substitution of the glycine at position 238 of the alpha chain by serine is the most N-terminal yet reported for this chain."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00209405"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00209405"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Byers P.H."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Dalgleish R."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Dalgleish R."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Mackay K."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Mackay K."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Rose N.J."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/author | "Rose N.J."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/pages | "215-218"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/pages | "215-218"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/title | "A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/title | "A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III."xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/volume | "95"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://purl.uniprot.org/core/volume | "95"xsd:string |
| http://purl.uniprot.org/citations/7860070 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7860070 |
| http://purl.uniprot.org/citations/7860070 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7860070 |