| http://purl.uniprot.org/citations/25402547 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25402547 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25402547 | http://www.w3.org/2000/01/rdf-schema#comment | "Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal-dominant inheritance, but many autosomal-recessive genes have been reported. We applied whole-exome sequencing to identify mutations in a Korean OI patient who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. We identified two novel variants in the BMP1 gene: c.808A>G and c.1297G>T. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypofunctional nature of the two variants was demonstrated in a zebrafish assay."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22731"xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22731"xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Hong G."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Hong G."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Kim S.J."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Kim S.J."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Lee J."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Lee J."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Iida A."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Iida A."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Miyake N."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Miyake N."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Park S.W."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Park S.W."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Nishimura G."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Nishimura G."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Kim O.H."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Kim O.H."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Ikegawa S."xsd:string |
| http://purl.uniprot.org/citations/25402547 | http://purl.uniprot.org/core/author | "Ikegawa S."xsd:string |