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[PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Oct 2023

Wei Xin-Yu, Wang Juan, Tan Bang-Yun, Li Zi-Jian

Abstract excerpt

Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient's mother.After...

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PMID: 37621108
DOI: 10.3881/j.issn.1000-503X.15541

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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