PMID 1593215 1992 Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
PMID 7878626 1994 Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations.
PMID 7841323 1994 A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.
PMID 1511988 1992 A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.
PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.