Article
Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene.
Human genetics - 1 May 1991
Mayerovà A, Zieger B, Brandis M, von Petrykowski W, Wolff G
Abstract excerpt
We report our investigations of a German family with aldosterone deficiency (CMO II deficiency). Restriction fragment length polymorphism analysis using a P450c11 probe demonstrates that a MspI restriction site mutation within the CYP11B gene cannot be the underlying cause for this defect, as has...
Topics
- Adult
- Aldosterone
- Autoradiography
- Blotting, Southern
- DNA
- Deoxyribonuclease HpaII
- Deoxyribonucleases, Type II Site-Specific
- Female
- Humans
- Infant, Newborn
- Male
- Mutation
- Pedigree
