RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/10606881http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10606881http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10606881http://www.w3.org/2000/01/rdf-schema#comment"To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC --> TGC (Arg308Cys) mutation in exon 9, a GCT-->GTT (Ala412Val) mutation in exon 11 and an AGC --> AGA (Ser576Arg) mutation in exon 15. We postulated on the structural implications of these missense mutations. Our results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.org/dc/terms/identifier"doi:10.1046/j.1365-2141.1999.01769.x"xsd:string
http://purl.uniprot.org/citations/10606881http://purl.org/dc/terms/identifier"doi:10.1046/j.1365-2141.1999.01769.x"xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Thompson S."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Thompson S."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Smith M."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Smith M."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Mitchell M."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Mitchell M."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Alhaq A."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Alhaq A."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Cutler J."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Cutler J."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Jenkins Ap Rees E."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Jenkins Ap Rees E."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Moore G."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Moore G."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Savidge G."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/author"Savidge G."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/name"Br. J. Haematol."xsd:string
http://purl.uniprot.org/citations/10606881http://purl.uniprot.org/core/name"Br. J. Haematol."xsd:string