Article
A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.
The Journal of clinical investigation - 1 Mar 1995
Jarolim P, Rubin H L, Brabec V, Palek J
Abstract excerpt
We describe a nonsense mutation in the regulatory domain of erythroid ankyrin associated with autosomal dominant hereditary spherocytosis with a selective deficiency of the ankyrin isoform 2.1 (55% of normal), a deficiency of spectrin (58% of normal) proportional to the decrease in ankyrin 2.1, a...
Topics
- Abnormalities, Multiple
- Alleles
- Alternative Splicing
- Ankyrins
- Base Sequence
- Erythrocyte Membrane
- Erythrocytes, Abnormal
- Genes, Dominant
- Glutamic Acid
- Humans
- Infant
- Infant, Newborn
- Jaundice, Neonatal
- Molecular Sequence Data