Article
Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.
American journal of hematology - 1 Jan 1999
Innes D S, Sinard J H, Gilligan D M, Snyder L M, Gallagher P G, Morrow J S
Abstract excerpt
Defects in stomatin, alpha-adducin, and beta-adducin have been implicated in erythrocyte disorders of cation permeability. We performed linkage analysis of the genetic loci for these proteins in a large kindred with xerocytosis (dehydrated hereditary stomatocytosis). Using polymerase chain reacti...
Topics
- Alleles
- Anemia, Hemolytic, Congenital
- Blood Proteins
- Calmodulin-Binding Proteins
- Erythrocytes, Abnormal
- Genetic Diseases, Inborn
- Genotype
- Humans
- Membrane Proteins
- Pedigree
