Article
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Human genetics - 1 Oct 1997
Tavassoli K, Eigel A, Pollmann H, Horst J
Abstract excerpt
Mutational analysis of the gene for clotting factor VIII is complicated by its large size, the high frequency of de novo mutations and its tissue-specific expression. In order to facilitate the search for mutations, we have used a combination of reverse transcription-polymerase chain reaction (RT...
Topics
- DNA Mutational Analysis
- DNA, Complementary
- Exons
- Factor VIII
- Hemophilia A
- Humans
- Phenotype
- Point Mutation
- RNA Splicing
- RNA, Messenger