A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease
Author:
Funder
National Key Research and Development Program of China
Publisher
Elsevier BV
Subject
Hematology
Reference10 articles.
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2. Decreased free protein S levels and venous thrombosis in the acute setting, a case-control study;Mulder;Thromb Res,2011
3. Organization of the human protein S genes;Schmidel;Biochem,1990
4. Molecular basis of protein S deficiency;PGd;Thromb Haemos,2007
5. PROS1 IVS10+5G>A mutation causes hereditary protein S deficiency in a Chinese patient with pulmonary embolism and venous thromboembolism;Wang;Thromb Res,2019
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency;Human Genome Variation;2024-07-26
2. Protein S deficiency caused by cryptic splicing due to the novel intron variant c.346+5G>C in PROS1;Thrombosis Research;2023-09
3. PROS1 variant c.1574C>T p.Ala525Val causes portal vein thrombosis with protein S deficiency;Clinics and Research in Hepatology and Gastroenterology;2023-06
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