title: Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Chiusolo
authors.forename: Tommaso
authors.initials: T
authors.lastname: Za
authors.forename: Sara
authors.initials: S
authors.lastname: Marietti
authors.forename: Angela
authors.initials: A
authors.lastname: Ciminello
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Leone
authors.forename: Valerio
authors.initials: V
authors.lastname: De Stefano
mesh_terms: D000293:Adolescent; D000990:Antithrombin III / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020152:Antithrombin III Deficiency / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001331:Automation; D001665:Binding Sites / Q000235:genetics; D001780:Blood Coagulation Tests; D005260:Female; D020022:Genetic Predisposition to Disease; D006493:Heparin / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008970:Molecular Weight; D020125:Mutation, Missense; D010375:Pedigree; D018570:Risk Assessment; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
chemical_list: D000990:Antithrombin III; D006493:Heparin