ArticleResearch and practice in thrombosis and haemostasis2017
Defects of splicing in antithrombin deficiency.
Article in Research and practice in thrombosis and haemostasis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 24 citations in OpenAlex.
- Management of Thrombosis in a Patient with Three Thrombophilic Disorders.Journal of blood medicine · 2024Article
- Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.PloS one · 2024Article
- Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.Thrombosis journal · 2023Article
- Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution.Journal of blood medicine · 2023Article
- Utility of theFrontiers in neurology · 2022Article
- Defects of splicing in antithrombin deficiency.Research and practice in thrombosis and haemostasis · 2017Article
- Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.Mass spectrometry reviewsReview
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Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is increasing evidence supporting the relevance of aberrant splicing in multiple disorders. In antithrombin deficiency only 22 intronic mutations affecting splicing sites (7% of
methods
resultsWe detected 89 different
conclusionsA high proportion of cases with antithrombin deficiency (up to 13%) may be explained by an aberrant splicing. Up to 15% of mutations in
Indexed as
Identifiers
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Registered trials
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