Article
Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency.
Molecular medicine reports - 1 Dec 2012
Pan Ying, Zhong Shao, Hu Ren-Ming, Gong Wei
Abstract excerpt
In the present study, we report the mutation of the 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in a family suffering from adrenocortical insufficiency. The index patient was clinically diagnosed with adrenocortical insufficiency. Peripheral venous blood (5 ml) was collected from the proband and 5 members of his family, and genomic DNA was extracted. Exons 1, 2, 3...
Topics
- 3' Untranslated Regions
- Addison Disease
- Adolescent
- Exons
- Genetic Testing
- Genotype
- Homozygote
- Humans
- Male
- Mutation
- Phenotype
- Progesterone Reductase
- Sequence Analysis, DNA
- Tomography, X-Ray Computed