Article
DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene.
The Journal of laboratory and clinical medicine - 1 Oct 1990
Matsushita T, Tanimoto M, Yamamoto K, Sugiura I, Hamaguchi M, Takamatsu J, Kamiya T, Saito H
Abstract excerpt
Three hemophilia B patients with anti-factor IX antibodies who had no detectable gross deletion of the factor IX gene by Southern blotting analysis were investigated at the molecular level. All eight exons, accompanied by their splicing junction sites and presumptive promoter regions of the factor IX gene in these patients (total 5.5 kb in length) were amplified with the use of the polymerase chain reaction,...
Topics
- Autoantibodies
- Base Sequence
- Chromosome Deletion
- DNA
- Exons
- Factor IX
- Genes
- Hemophilia A
- Humans
- Introns
- Molecular Sequence Data