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Article

Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency.

Annals of hematology - 1 Feb 2024

Xu Fei, Zhou Xingxing, Jin Yanhui, Yang Lihong, Pan Jingye, Wang Mingshan, Chen Xiaoli

Abstract excerpt

We report three heterozygous PROS1 mutations that caused type I protein S deficiency in three unrelated Chinese families. We measured protein S activity and antigen levels for all participants, screened them for mutations in the PROS1 gene. And we employed the calibrated automated thrombin generation (CAT) method to investigate thrombin generation. Numerous bioinformatics tools were utilized to analyze the...

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PMID: 38175252
DOI: 10.1007/s00277-023-05607-6

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