Article
The rates and patterns of deletions in the human factor IX gene.
American journal of human genetics - 1 Feb 1994
Ketterling R P, Vielhaber E L, Lind T J, Thorland E C, Sommer S S
Abstract excerpt
Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of > or = 21 bp) are uncommon. We have analyzed DNA from 290 families with hemophilia B (203 independent mutations) a...
Topics
- Base Sequence
- DNA
- Factor IX
- Gene Deletion
- Hemophilia B
- Humans
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Nucleic Acid Conformation
- RNA, Messenger
- Repetitive Sequences, Nucleic Acid
- Sequence Deletion