SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency.
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Journal Title: Thromb J
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"the c 1274dupc frameshift mutation was submitted to clinvar ( www ncbi nlm nih gov/clinvar ; accession scv002520629)."
"Conflict of interest The authors declare that they have no conflicts of interest. Declarations Ethics approval and consent to participateThe study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics Committee of the Friedrich-Alexander-University Erlangen-Nürnberg (FAU). Informed written consent was obtained from both patients (ethics committee vote #477_ 20 B) and healthy blood donors (ethics committee vote #357_19 B, #343_18 B). Consent for publicationNot applicable. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."
"Funding Open Access funding enabled and organized by Projekt DEAL. We acknowledge financial support by the Deutsche Forschungsgemeinschaft and Friedrich-Alexander-University Erlangen-Nürnberg (FAU) within the funding program “Open Access Publication Funding”."
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Last Updated: Aug 05, 2025