LANE, DA and IRELAND, H and OLDS, RJ and THEIN, SL and PERRY, DJ and AIACH, M (1991) ANTITHROMBIN-III - A DATABASE OF MUTATIONS. THROMB HAEMOSTASIS , 66 (6) 657 - 661.
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Abstract
Elucidation of the molecular defects reponsible 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.
| Type: | Article |
|---|---|
| Title: | ANTITHROMBIN-III - A DATABASE OF MUTATIONS |
| Keywords: | ANTI-THROMBIN-III, AMINO-ACID SUBSTITUTION, POLYMERASE CHAIN-REACTION, HEREDITARY ABNORMAL ANTITHROMBIN, SINGLE BASE SUBSTITUTION, HEPARIN-BINDING-SITE, POINT MUTATION, NORTHWICK PARK, CDNA CLONE, VARIANT |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
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