| http://purl.uniprot.org/citations/12707951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12707951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12707951 | http://www.w3.org/2000/01/rdf-schema#comment | "The urofacial (Ochoa) syndrome (UFS) characterized by congenital obstructive uropathy and abnormal facial expression is a rare disorder caused by a single recessive disease gene. Our previous studies using homozygosity mapping have located the UFS gene to a genomic interval of approximately 360 kb on chromosome 10q23-10q24. In this study, we have constructed a genomic sequence map covering the entire UFS interval and narrowed the disease interval to a genomic region of 220 kb that harbor the newly identified ACDP1 gene in addition to part of the GOT1 gene which has already been excluded as a candidate for UFS. Extensive search for mutations in the coding region, the 5' and 3' untranslated regions, the promoter region, and the exon/intron junctions failed to identify a pathogenic mutation in UFS patients. Furthermore, our analyses indicated that the same gene on chromosome 10q is responsible for all UFS patients from multiple ethnic groups."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.20042"xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.20042"xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Yang P."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Yang P."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Hawkins-Lee B."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Hawkins-Lee B."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Ochoa B."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Ochoa B."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Davoodi-Semiromi A."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Davoodi-Semiromi A."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "She J.-X."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "She J.-X."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Shi J.-D."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Shi J.-D."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Wang C.-Y."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Wang C.-Y."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Huang Y.-Q."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Huang Y.-Q."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Agundez J.A.G."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Agundez J.A.G."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Moran J.M."xsd:string |
| http://purl.uniprot.org/citations/12707951 | http://purl.uniprot.org/core/author | "Moran J.M."xsd:string |