abstract
- 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.
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis
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Overview
authors
status
publication date
- August 1992
has subject area
- 0604 Genetics (FoR)
- 1104 Complementary and Alternative Medicine (FoR)
- 1114 Paediatrics and Reproductive Medicine (FoR)
- Arginine (MeSH)
- Base Sequence (MeSH)
- Exons (MeSH)
- Female (MeSH)
- Genetics & Heredity (Science Metrix)
- Heterozygote (MeSH)
- Humans (MeSH)
- Male (MeSH)
- Molecular Sequence Data (MeSH)
- Mutation (MeSH)
- Pedigree (MeSH)
- Protein C (MeSH)
- Protein C Deficiency (MeSH)
- Recurrence (MeSH)
- Thrombophlebitis (MeSH)
published in
- Human Genetics Journal