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. 2025 Dec 26.
doi: 10.1186/s12959-025-00824-7. Online ahead of print.

A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation

Rui Tuo #  1   2 , Lixuan Chen #  3 , Xingxian Xiao  4 , Qinglin Mo  5 , Chaolin Chen  6 , Chang Su  6 , Ying Feng  7 , Yang Xiao  8   9
Affiliations
Free article

A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation

Rui Tuo et al. Thromb J. .
Free article
No abstract available

Keywords: Compound heterozygous mutation; Deep vein thrombosis (DVT); Protein c deficiency; Thrombomodulin.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The gene testing and clinical examination was performed in accordance with the ethical committee of Shenzhen Qianhai Shekou Pilot Free Trade Zone Hospital. We obtained peripheral blood samples from the patient and his family for laboratory examinations and genetic detection after obtaining consent. Consent for publication: We have ensured obtaining the consent of patients and their families for publication. Competing interests: The authors declare no competing interests.

References

    1. Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J. Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost. 2007;5(4):692–9.
    1. Ho WK, Hankey GJ, Eikelboom JW. The incidence of venous thromboembolism: a prospective, community-based study in Perth, Western Australia. Med J Aust. 2008;189(3):144–7.
    1. Heit JA, Phelps MA, Ward SA, Slusser JP, Petterson TM, De Andrade M. Familial segregation of venous thromboembolism. J Thromb Haemost. 2004;2(5):731–6.
    1. Vossen CY, Conard J, Fontcuberta J, Makris M, Van Der Meer FJ, Pabinger I, Palareti G, et al. Familial thrombophilia and lifetime risk of venous thrombosis. J Thromb Haemost. 2004;2(9):1526–32.
    1. Vossen CY, Conard J, Fontcuberta J, Makris M, Van Der Meer FJ, Pabinger I, Palareti G, et al. Risk of a first venous thrombotic event in carriers of a Familial thrombophilic defect. The European prospective cohort on thrombophilia (EPCOT). J Thromb Haemost. 2005;3(3):459–64.

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