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.

journal_name

Thromb Haemost

authors

Lane DA,Ireland H,Olds RJ,Thein SL,Perry DJ,Aiach M

subject

Has Abstract

pub_date

1991-12-02 00:00:00

pages

657-61

issue

6

eissn

0340-6245

issn

2567-689X

journal_volume

66

pub_type

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