| http://purl.uniprot.org/citations/9718340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9718340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9718340 | http://www.w3.org/2000/01/rdf-schema#comment | "The MID1 gene in Xp22 codes for a novel member of proteins containing a RING finger, B-box, coiled-coil and a conserved C-terminal domain. Initially, three mutations in the C-terminal region were found in patients with Opitz G/BBB syndrome, a defect of midline development. Here we have determined the complete gene structure of the MID1 gene and have analyzed all nine exons for mutations in a set of 40 unrelated Opitz G/BBB patients. We now report six additional mutations all clustered in the carboxy-terminal domain of the MID1 protein. These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.org/dc/terms/identifier | "doi:10.1086/302010"xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.org/dc/terms/identifier | "doi:10.1086/302010"xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Horst J."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Horst J."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Feldman G.J."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Feldman G.J."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Roessler E."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Roessler E."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Opitz J.M."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Opitz J.M."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Montini E."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Montini E."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Gaudenz K."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Gaudenz K."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Gasser D.L."xsd:string |
| http://purl.uniprot.org/citations/9718340 | http://purl.uniprot.org/core/author | "Gasser D.L."xsd:string |