A NOVEL MISSENSE MUTATION IN THE ANTITHROMBIN-III GENE (SER349-]PRO) CAUSING RECURRENT VENOUS THROMBOSIS

Authors
GRUNDY CB HOLDING S MILLAR DS KAKKAR VV COOPER DN
Citation
Cb. Grundy et al., A NOVEL MISSENSE MUTATION IN THE ANTITHROMBIN-III GENE (SER349-]PRO) CAUSING RECURRENT VENOUS THROMBOSIS, Human genetics, 88(6), 1992, pp. 707-708
Citations number
11
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
88
Issue
6
Year of publication
1992
Pages
707 - 708
Database
ISI
SICI code
0340-6717(1992)88:6<707:ANMMIT>2.0.ZU;2-K
Abstract
A novel TCC --> CCC transition in the antithrombin III (ATIII) gene re sulting in a Ser349 --> Pro substitution was detected in three members of a family with recurrent venous thrombosis and ATIII activity/antig en levels consistent with type II ATIII deficiency.