Article

A Thrombophilia Family With Protein S Deficiency Due to Protein Translation Disorders Caused By a Leu607Ser Heterozygous Mutation in PROS1

2021-07-08

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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 (<italic>PROS1</italic>) mutations increase the risk of thrombosis. More than 300 <italic>PROS1 </italic>mutations have been identified; among them, only a small n...

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Literature Corpus work: 7c57de65-e9fb-5d8c-b45b-5f5d86e32eb8
DOI: 10.21203/rs.3.rs-680368/v1

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