Article
Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.
Blood - 1 Nov 1991
Vidaud D, Emmerich J, Sirieix M E, Sié P, Alhenc-Gelas M, Aiach M
Abstract excerpt
Antithrombin III (AT III) type I deficiencies are characterized by a 50% decrease of both immunoreactive and functional protein and carry a high risk of thrombotic complication. We have studied the molecular basis for such deficiencies by asymmetric polymerase chain reaction amplification and dir...
Topics
- Adult
- Amino Acid Sequence
- Antithrombin III
- Antithrombin III Deficiency
- Base Sequence
- Chromosome Deletion
- Codon
- DNA
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction