| http://purl.uniprot.org/citations/6092353 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/6092353 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/6092353 | http://www.w3.org/2000/01/rdf-schema#comment | "Osteogenesis imperfecta (OI), a brittle-bone disorder, constitutes a major group of the inherited diseases of connective tissue. We have been studying an autosomal recessive form of OI in which the severely affected patient has inherited two abnormal pro-alpha 2(I) collagen alleles from consanguinous parents. Previously, nuclease S1 mapping was employed to localize a defect in the mRNA coding for the pro-alpha 2(I) collagen carboxyl-propeptide. The mutation prevents incorporation of pro-alpha 2(I) chains into the normal type I procollagen heterotrimer resulting in secretion of only pro-alpha 1(I) homotrimers. Here we report complete characterization of the corresponding region of the altered gene. Polyacrylamide gel electrophoresis and Southern blot hybridization showed a small homozygous deletion in the pro-alpha 2(I) collagen gene of the patient and a heterozygous pattern in both parents. Genomic cloning of the patient's DNA revealed a four nucleotide frameshift deletion in exon 1 near the end of translation which apparently instigates use of a new termination codon four nucleotides 3' to the original site. The mutation identified in this OI patient directly demonstrates the critical role of the carboxyl-propeptides in chain selection and assembly during the biosynthesis of procollagen."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)90635-6"xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(18)90635-6"xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Pope F.M."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Pope F.M."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Prockop D.J."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Prockop D.J."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Nicholls A."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Nicholls A."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Myers J.C."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Myers J.C."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Dickson L.A."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Dickson L.A."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Korhonen V.R."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Korhonen V.R."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Pihlajaniemi T."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/author | "Pihlajaniemi T."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/date | "1984"xsd:gYear |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/date | "1984"xsd:gYear |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/pages | "12941-12944"xsd:string |
| http://purl.uniprot.org/citations/6092353 | http://purl.uniprot.org/core/pages | "12941-12944"xsd:string |