Article
A review of mutations causing deficiencies of antithrombin, protein C and protein S.
Thrombosis and haemostasis - 1 Jul 1995
Aiach M, Gandrille S, Emmerich J
Abstract excerpt
The mutations observed in patients with antithrombin and protein C deficiencies are mostly substitutions of one nucleotide, or deletions/insertions of fewer than 10 nucleotides in the exons and intron-exon junctions. These genomic abnormalities result in missense changes (involving aminoacids imp...
Topics
- Alleles
- Antithrombin III
- Antithrombin III Deficiency
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 3
- Databases, Factual
- Genes
- Humans
- Mutation
- Point Mutation
- Protein C
- Protein C Deficiency
- Protein S
- Protein S Deficiency
- Sequence Deletion