SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency.

Authors:
Ruf M; Cunningham S; Wandersee A; Brox R; Achenbach S and 3 more

Journal:
Thromb J

Publication Year: 2024

DOI:
10.1186/s12959-024-00589-5

PMCID:
PMC10860291

PMID:
38347553

Journal Information

Journal Title: Thromb J

Detailed journal information not available.

Publication Details

Subject Category: Hematology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"the c 1274dupc frameshift mutation was submitted to clinvar ( www ncbi nlm nih gov/clinvar ; accession scv002520629)."

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Evidence found in paper:

"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."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025