Article
Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.
Thrombosis and haemostasis - 1 Oct 1994
Emmerich J, Chadeuf G, Alhenc-Gelas M, Gouault-Heilman M, Toulon P, Fiessinger J N, Aiach M
Abstract excerpt
We report three novel mutations accounting for cases of inherited type I antithrombin (AT) deficiency. Using the polymerase chain reaction (PCR) and direct sequencing of the coding sequences of the AT gene, we found one mutation in exon 4 and two in exon 6. A deletion of 105 bp causing an in-fram...
Topics
- Amino Acid Sequence
- Antithrombin III
- Antithrombin III Deficiency
- Base Sequence
- DNA Mutational Analysis
- Exons
- Frameshift Mutation
- Genetic Predisposition to Disease
- Humans
- Molecular Sequence Data
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid
- Sequence Deletion
- Thromboembolism