A novel heterozygous frameshift c.277del p.Thr93Leufs*21 mutation in <i>SERPINC1</i> associated with type 1 antithrombin deficiency-Reference-Cited by-同舟云学术

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A novel heterozygous frameshift c.277del p.Thr93Leufs*21 mutation in SERPINC1 associated with type 1 antithrombin deficiency

Published:2024-04-02 Issue:6 Volume:71 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Kumar Riten¹²^ORCID,Duzan Juliann¹,Drake Emily¹,Dawson Jennifer³

Affiliation:

1. Dana Farber/Boston Children's Cancer and Blood Disorders Center Boston Massachusetts USA

2. Department of Pediatrics Harvard Medical School Boston Massachusetts USA

3. Genomic Medicine Lerner Research Institute, Cleveland Clinic Cleveland Ohio USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30986

Reference13 articles.

1. Prevalence of antithrombin deficiency in healthy blood donors: A cross-sectional study

2. Impact of high‐risk thrombophilia status on recurrence among children with a first non‐central‐venous‐catheter‐associated VTE: an observational multicentre cohort study

3. Impact of Inherited Thrombophilia on Venous Thromboembolism in Children

4. 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

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