Journal article
Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency—first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository
Abstract
BACKGROUND: The natural history and genotype-phenotype correlation of congenital antithrombin (AT) deficiency in children are unknown.
OBJECTIVES: To describe the clinical presentation of congenital AT deficiency in children and evaluate its correlation to specific mutations in SERPINC1.
Authors
Kumar R; Bakeer N; Dawson J; Al-Mughairy A; Stanek J; Dunn A; Male C; Chan A; Williams S
Journal
Journal of Thrombosis and Haemostasis, Vol. 21, No. 5, pp. 1248–1257
Publisher
Elsevier
Publication Date
May 2023
DOI
10.1016/j.jtha.2023.01.037
ISSN
1538-7933