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 found in beta spectrin Providence. The Providence mutation replaces serine2019 with proline. Heterozygotes display...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.