| http://purl.uniprot.org/citations/21451434 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21451434 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21451434 | http://www.w3.org/2000/01/rdf-schema#comment | "Warfarin (coumadin) is a worldwide-prescribed anticoagulant for the long-term treatment and prevention of thromboembolic events, presenting a great interindividual variability in the required dose. It is known that both environmental and genetic factors influence the dose necessary for the therapeutic effect. Herein we describe a pharmacogenetic study conducted on an Italian patient with warfarin hypersensitivity, who required a very low dosage to achieve therapeutic anticoagulation effect. We genotyped common polymorphisms in VKORC1, CYP2C9, and CYP4F2 genes, known to be involved in warfarin dosing. As the patient resulted in a mixture of low-dosing and high-dosing polymorphic variants, we searched for rare mutations by direct sequencing of the same genes. We identified in the CYP2C9 gene, a novel mutation in heterozygote status, c.374G>T, which produces the Arg125Leu substitution. We have observed, through an electrostatic analysis, that the new mutation produces an electrostatic alteration on the cytochrome surface."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.org/dc/terms/identifier | "doi:10.1097/fpc.0b013e328344c340"xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.org/dc/terms/identifier | "doi:10.1097/fpc.0b013e328344c340"xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Novelli G."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Novelli G."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Falconi M."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Falconi M."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Borgiani P."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Borgiani P."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Desideri A."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Desideri A."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Ciccacci C."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Ciccacci C."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Forte V."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Forte V."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Oteri F."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Oteri F."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Paolillo N."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/author | "Paolillo N."xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/name | "Pharmacogenet. Genomics"xsd:string |
| http://purl.uniprot.org/citations/21451434 | http://purl.uniprot.org/core/name | "Pharmacogenet. Genomics"xsd:string |