| http://purl.uniprot.org/citations/12552563 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12552563 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12552563 | http://www.w3.org/2000/01/rdf-schema#comment | "Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of the vacuolar proton ATPase (ATP6I). In this study, we identified four novel mutations in a series of six IMO patients. All of these mutations correspond to single nucleotide changes and affect splice acceptor or donor sites, resulting in aberrant transcription products. We report also a missense mutation, G405R, previously described in several Costa Rican patients. This independent finding suggests that the highly conserved residue at amino acid 405 plays a critical role in the a3 subunit function. Finally, the results of this study were used to provide a prenatal diagnosis to one of the families."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.10165"xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.10165"xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Fischer A."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Philip N."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Philip N."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Parrinello H."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Parrinello H."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Grosgeorge J."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Grosgeorge J."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Carle G.F."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Carle G.F."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Gaudray P."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Gaudray P."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Scimeca J.-C."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Scimeca J.-C."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Quincey D."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Quincey D."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Romatet D."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/author | "Romatet D."xsd:string |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12552563 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |