Article
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Molecular endocrinology (Baltimore, Md.) - 1 May 1993
Simard J, Rhéaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Seters A P, Gordon R D, Bettendorf M, Heinrich U
Abstract excerpt
Congenital adrenal hyperplasia is the most frequent cause of adrenal insufficiency and ambiguous genitalia in newborn children. In contrast to congenital adrenal hyperplasia due to 21-hydroxylase and 11 beta-hydroxylase deficiencies, which impair steroid formation in the adrenal cortex, exclusive...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- DNA
- Frameshift Mutation
- Humans
- Immunoblotting
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Pedigree