Identification of two de novo variants causing inherited antithrombin deficiency by quantitative analysis of variant alleles
Author:
Publisher
Elsevier BV
Subject
Hematology
Reference10 articles.
1. A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia;Tarantino;Am. J. Hematol.,1999
2. Antithrombin deficiency in Brazilian patients with venous thrombosis: molecular characterization of a single splice site mutation, an insertion and a de novo point mutation;Arnaldi;Thromb. Res.,2001
3. Identification of two de novo mutations responsible for type I antithrombin deficiency;Orlando;Thromb. Haemost.,2012
4. Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D);Kamijima;Int. J. Hematol.,2018
5. Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort;Gindele;J. Thromb. Haemost.,2016
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