Article
Naturally occurring mutations in human steroid 21-hydroxylase influence adrenal autoantibody binding.
The Journal of clinical endocrinology and metabolism - 1 Aug 1994
Asawa T, Wedlock N, Baumann-Antczak A, Smith B R, Furmaniak J
Abstract excerpt
Human 21-hydroxylase (21-OH) genes containing various mutations, truncations, and deletions were expressed in yeast, and autoantibody binding was studied by Western blotting using patient sera and rabbit antibodies to 21-OH. 21-OH autoantibodies in 13 Addisonian sera showed a marked reduction in...
Topics
- Adrenal Glands
- Autoantibodies
- Autoantigens
- Base Sequence
- Blotting, Western
- Gene Deletion
- Gene Expression
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Restriction Mapping
- Saccharomyces cerevisiae
- Steroid 21-Hydroxylase
- Structure-Activity Relationship