Article
Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.
The Journal of clinical endocrinology and metabolism - 1 Mar 1994
Sanchez R, Rhéaume E, Laflamme N, Rosenfield R L, Labrie F, Simard J
Abstract excerpt
Three beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta HSD) deficiency is a form of congenital adrenal hyperplasia characterized by severe impairment of steroid biosynthesis in the adrenals and gonads. To better understand the molecular basis of the phenotypic heterogeneity fou...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adolescent
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Female
- Genes
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Sodium Chloride