Article
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1992
Linton M F, Pierotti V, Young S G
Abstract excerpt
We examined a mutant human apolipoprotein B (apoB) allele that causes hypobetalipoproteinemia and has a single cytosine deletion in exon 26. This frameshift mutation was associated with the synthesis of a truncated apoB protein of the predicted size; however, studies in human subjects and minigene expression studies in cultured cells indicated that the mutant allele also yielded a full-length apoB protein. The...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Apolipoproteins B
- Base Sequence
- DNA
- Frameshift Mutation
- Gene Expression
- Genes
- Humans
- Hypobetalipoproteinemias
- In Vitro Techniques