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• W2765495000 abstract "Key Clinical MessageOur results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency." @default.
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• W2765495000 date "2017-11-03" @default.
• W2765495000 modified "2023-10-17" @default.
• W2765495000 title "PROS1novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease" @default.
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• W2765495000 doi "https://doi.org/10.1002/ccr3.1226" @default.
• W2765495000 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5715601" @default.
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