| http://purl.uniprot.org/citations/11799476 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11799476 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11799476 | http://www.w3.org/2000/01/rdf-schema#comment | "Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great arteries and double-outlet right ventricle, in the absence of laterality defects---would also have CFC1 mutations. Our analysis of the CFC1 gene in patients with these cardiac disorders identified two disease-related mutations in 86 patients. The present study identifies the first autosomal single-gene defect for these cardiac malformations and indicates that some cases of transposition of the great arteries and double-outlet right ventricle can share a common genetic etiology with heterotaxy syndrome. In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.org/dc/terms/identifier | "doi:10.1086/339079"xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.org/dc/terms/identifier | "doi:10.1086/339079"xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Muenke M."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Roessler E."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Roessler E."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Bamford R."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Bamford R."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Goldmuntz E."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Goldmuntz E."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Karkera J.D."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "Karkera J.D."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "dela Cruz J."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/author | "dela Cruz J."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/pages | "776-780"xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/pages | "776-780"xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/title | "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle."xsd:string |
| http://purl.uniprot.org/citations/11799476 | http://purl.uniprot.org/core/title | "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle."xsd:string |