Article
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites.
Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992
Rund D, Dowling C, Najjar K, Rachmilewitz E A, Kazazian H H, Oppenheim A
Abstract excerpt
Two mutations in the beta-globin poly(A) signal were identified in Israeli patients with beta +-thalassemia by sequence analysis following PCR. One is a point mutation (AATAAA----AATAAG) and the other is a 5-base-pair deletion (AATAAA----A----). The mutant genes were used to investigate the funct...
Topics
- Base Sequence
- Blotting, Northern
- Exons
- Globins
- Humans
- Molecular Sequence Data
- Molecular Weight
- Mutation
- Poly A
- Polymerase Chain Reaction
- Protein Biosynthesis
- RNA
- RNA, Messenger
- Reference Values
- Restriction Mapping