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- W3012186796 abstract "•A heterozygous splicing variation PROS1: c.965 + 4A > T was found in a family with venous thrombosis. •PROS1: c.965 + 4A > T splice site variant activated a cryptic donor site located inside exon 9, leading to the deletion of the last 78 nucleotides of PROS1 mRNA exon 9. •The deletion in exon 9 causes the loss of 26 protein S amino acid residues that border the Laminin_G_1 domain." @default.
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- W3012186796 date "2020-05-01" @default.
- W3012186796 modified "2023-10-14" @default.
- W3012186796 title "A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease" @default.
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- W3012186796 doi "https://doi.org/10.1016/j.thromres.2020.03.006" @default.
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