title: Antithrombin III: a database of mutations.
abstract: Elucidation of the molecular defects responsible for antithrombin III deficiency is proceeding rapidly. In order that a record is kept of the new and duplicated mutations that are found, we have compiled a database that we plan to update annually. In this, the first report of the database, we list 6 antithrombin III locus sequence polymorphisms and 94 recorded mutations causing functional deficiency of the protein, 38 of which are novel. As is the case with mutations affecting other protein genes, most mutations of antithrombin III involve a CG to TG or CA change.
authors.affiliation: Department of Haematology, Charing Cross and Westminster Medical School, Hammersmith, London, United Kingdom.
authors.forename: D A
authors.initials: DA
authors.lastname: Lane
authors.forename: H
authors.initials: H
authors.lastname: Ireland
authors.forename: R J
authors.initials: RJ
authors.lastname: Olds
authors.forename: S L
authors.initials: SL
authors.lastname: Thein
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
authors.forename: M
authors.initials: M
authors.lastname: Aiach
mesh_terms: D000990:Antithrombin III / Q000235:genetics*; D002874:Chromosome Mapping; D016208:Databases, Factual; D006801:Humans; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D000990:Antithrombin III