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 important for protein folding), aberrant polypeptide chains and/or premature termination codons, or abnormal splicing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.