| http://purl.uniprot.org/citations/16879195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16879195 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16879195 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2006.00646.x"xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.2006.00646.x"xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Mottes M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Mottes M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Valli M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Valli M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Antoniazzi F."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Antoniazzi F."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Camilot M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Camilot M."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Tato L."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Tato L."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Tedeschi E."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Tedeschi E."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Venturi G."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Venturi G."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Viglio S."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/author | "Viglio S."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/16879195 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |