Article
The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle.
Laboratory investigation; a journal of technical methods and pathology - 1 Jun 1996
Weed S A, Stabach P R, Oyer C E, Gallagher P G, Morrow J S
Abstract excerpt
Point mutations in beta I sigma 1 spectrin that impair the self-association of spectrin alpha beta heterodimers cause mild to severe hemolytic disease and erythrocyte shape abnormalities. Most such mutations act in a dominant negative fashion. One mutation that is particularly devastating is foun...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Hemolysis
- Homozygote
- Humans
- Infant, Newborn
- Mice
- Mice, Inbred C3H
- Molecular Sequence Data
- Muscle, Skeletal
- Phenotype
- Point Mutation
- Protein Conformation
- Recombinant Proteins
- Sarcolemma
- Spectrin
- Transfection