Article
Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Thrombosis and haemostasis - 1 Aug 1996
Andersen B D, Lind B, Philips M, Hansen A B, Ingerslev J, Thorsen S
Abstract excerpt
Sixteen Danish unrelated thrombophilic families with plasma protein S deficiency of type 1 (or III) are currently under investigation in our laboratory for defects in the protein S alpha gene. The present paper describes a part of this work, which deals with the identification and phenotypical pr...
Topics
- Adult
- Codon, Nonsense
- Codon, Terminator
- Exons
- Female
- Frameshift Mutation
- Gene Deletion
- Genetic Predisposition to Disease
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Peptide Fragments
- Phenotype
- Protein S
- RNA, Messenger
- Reference Values
- Sequence Analysis, DNA