A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1

Abstract Background Protein S deficiency (PSD) is an autosomal dominant hereditary disease. In 1984, familial PSD was reported to be prone to recurrent thrombosis. Follow-up studies have shown that heterozygous protein S (PROS1) mutations increase the risk of thrombosis. More than 300 PROS1 mutation...

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Bibliographic Details
Main Authors: Yan-ping Zhang, Bin Lin, Yuan-yuan Ji, Ya-nan Hu, Xin-fu Lin, Yi Tang, Jian-hui Zhang, Shao-jie Wu, Sen-lin Cai, Yan-feng Zhou, Ting Chen, Zhu-ting Fang, Jie-wei Luo
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Thrombosis Journal
Subjects:
Protein S
Deficiency
PROS1
Mutation
Vein thrombosis
Online Access:https://doi.org/10.1186/s12959-021-00316-4

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