Article
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
The Journal of clinical investigation - 1 Jul 1991
Garbarz M, Tse W T, Gallagher P G, Picat C, Lecomte M C, Galibert F, Dhermy D, Forget B G
Abstract excerpt
The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the polymerase chain reaction. Peripheral blood reticulocyte RNA was transcribed into cDNA and amplifie...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- Elliptocytosis, Hereditary
- Exons
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Spectrin