Article
CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
Human molecular genetics - 1 Oct 1997
Joehrer K, Geley S, Strasser-Wozak E M, Azziz R, Wollmann H A, Schmitt K, Kofler R, White P C
Abstract excerpt
Steroid 11 beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. Severely affected patients carry mutations in the CYB11B1 gene that destroy enzymatic activity. Such patients have signs of androgen excess and...
Topics
- Adrenal Glands
- Adrenal Hyperplasia, Congenital
- Adult
- Animals
- Base Sequence
- COS Cells
- Cloning, Molecular
- DNA Mutational Analysis
- DNA, Complementary
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Pedigree
- Steroid 11-beta-Hydroxylase