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http://purl.uniprot.org/citations/1906811http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1906811http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1906811http://www.w3.org/2000/01/rdf-schema#comment"Four unrelated individuals have been identified with an identical antithrombin variant, associated in one of them with episodes of recurrent venous thromboses. In each case, the plasma antithrombin concentration was normal and the only function abnormality was a minor but consistent decrease in the heparin-induced thrombin inhibition suggesting a mutation at or near the reactive centre of the molecule. Amplification and direct sequencing of exon 6 showed a G----T mutation at nucleotide 1246, which corresponds to a substitution of a serine for an alanine at residue 384. This is one of a series of conserved alanines that form the stalk to the reactive centre loop. The observed changes in this variant are compatible with recent structural studies that infer that mobility of this stalk with partial re-entry into the A-sheet of the molecule is necessary for optimal inhibitory activity."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.org/dc/terms/identifier"doi:10.1016/0014-5793(91)80809-h"xsd:string
http://purl.uniprot.org/citations/1906811http://purl.org/dc/terms/identifier"doi:10.1016/0014-5793(91)80809-h"xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Price J."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Price J."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Carrell R.W."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Carrell R.W."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Tait R.C."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Tait R.C."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Daly M."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Daly M."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Harper P.L."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Harper P.L."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Perry D.J."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Perry D.J."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Walker I.D."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/author"Walker I.D."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/date"1991"xsd:gYear
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/date"1991"xsd:gYear
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/name"FEBS Lett."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/name"FEBS Lett."xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/pages"248-250"xsd:string
http://purl.uniprot.org/citations/1906811http://purl.uniprot.org/core/pages"248-250"xsd:string