| http://purl.uniprot.org/citations/22565191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22565191 | http://www.w3.org/2000/01/rdf-schema#comment | "Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.gene.2012.04.023"xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Guo Z."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Hu Z."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Xiong Z."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Xu X."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Wang B."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Xie Z."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Zhao D."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Peng H."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Xue J."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Long Z."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Su W."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/author | "Xia K."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/name | "Gene"xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/pages | "168-171"xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/title | "A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family."xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://purl.uniprot.org/core/volume | "502"xsd:string |
| http://purl.uniprot.org/citations/22565191 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22565191 |
| http://purl.uniprot.org/citations/22565191 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22565191 |
| http://purl.uniprot.org/uniprot/#_B7Z4S2-mappedCitation-22565191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22565191 |
| http://purl.uniprot.org/uniprot/#_H9C5C5-mappedCitation-22565191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22565191 |