Xcode Life

Condition: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

rs121918150 in PROC;LOC105373608 gene and THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

PMID 7841324 1994 A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

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 1611081 1992 Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation.