Summary
A CGA→TGA transition in the protein C gene, resulting in an Arg306→Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.
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Grundy, C.B., Schulman, S., Krawczak, M. et al. Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene. Hum Genet 88, 586–588 (1992). https://doi.org/10.1007/BF00219350
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DOI: https://doi.org/10.1007/BF00219350