Summary
Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.
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References
Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151–155
Foster D, Davie EW (1984) Characterization of a cDNA coding for human protein C. Proc Natl Acad Sci USA 81:4766–4770
Gandrille S, Vidaud M, Aiach M, Alhenc-Gelas M, Fischer AM. Gouault-Heilman M, Toulon P, Goossens M (1991) Six previously undescribed mutations in 9 families with protein C quantitative deficiency. Thromb Haemost 65:646
Grundy CB, Chisholm M, Kakkar VV, Cooper DN (1992) A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. Hum Genet 89:683–684
Long GL, Belagaje RM, MacGillivray RTA (1984) Cloning and sequencing of liver cDNA coding for bovine protein C. Proc Natl Acad Sci USA 81:5653–5656
Reitsma PH, Poort SR, Allaart CF, Briët E, Bertina RM (1991) The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. Blood 78:890–894
Sala N, Poort SR, Bertina RM, Soria JM, Fontcuberta J, Reitsma PH (1991) Identification of two deletions and four point mutations in the protein C gene of 6 unrelated Spanish patients with hereditary protein C deficiency. Thromb Haemost 65:1197
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Grundy, C.B., Schulman, S., Tengborn, L. et al. Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. Hum Genet 89, 685–686 (1992). https://doi.org/10.1007/BF00221964
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DOI: https://doi.org/10.1007/BF00221964