| http://purl.uniprot.org/citations/9722947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9722947 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9722947 | http://www.w3.org/2000/01/rdf-schema#comment | "The human X chromosome is known to contain several disease genes yet to be cloned. In the course of a project aimed at the construction of a transcription map of the Xp22 region, we fully characterized a novel cDNA, Cxorf5 (HGMW-approved symbol, alias 71-7A), previously mapped to this region but for which no sequence information was available. We isolated and sequenced the full-length transcript, which encodes a predicted protein of unknown function containing a large number of coiled-coild domains, typically presented in a variety of different molecules, from fibrous proteins to transcription factors. We showed that the Cxorf5 cDNA is ubiquitously expressed, undergoes alternative splicing, and escapes X inactivation. Furthermore, we precisely mapped two additional Cxorf5-related loci on the Y chromosome and on chromosome 5. By virtue of its mapping assignment to the Xp22 region, Cxorf5 represents a candidate gene for at least four human diseases, namely spondyloepiphiseal dysplasia late, oral-facial-digital syndrome type 1, craniofrontonasal syndrome, and a nonsyndromic sensorineural deafness."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1998.5348"xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1998.5348"xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Mariani M."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Mariani M."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Borsani G."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Borsani G."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Banfi S."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Banfi S."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Franco B."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Marchitiello A."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Marchitiello A."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Zuffardi O."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Zuffardi O."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Consalez G.G."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Consalez G.G."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Wapenaar M.C."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "Wapenaar M.C."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "de Conciliis L."xsd:string |
| http://purl.uniprot.org/citations/9722947 | http://purl.uniprot.org/core/author | "de Conciliis L."xsd:string |