Article
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jun 1992
Pascoe L, Curnow K M, Slutsker L, Rösler A, White P C
Abstract excerpt
Corticosterone methyloxidase II (CMO-II) deficiency is an autosomal recessive disorder of aldosterone biosynthesis, characterized by an elevated ratio of 18-hydroxycorticosterone to aldosterone in serum. It is genetically linked to the CYP11B1 and CYP11B2 genes that, respectively, encode two cyto...
Topics
- Base Sequence
- Cytochrome P-450 CYP11B2
- Cytochrome P-450 Enzyme System
- Genes
- Humans
- Iran
- Jews
- Mixed Function Oxygenases
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Oligodeoxyribonucleotides