Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene.

Abstract

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 been suggested previously.

• Authors: A Mayerovà, B Zieger, M Brandis, W von Petrykowski, G Wolff
• Journal: Human genetics (Hum Genet) Vol. 87 Issue 1 Pg. 97-8 (May 1991) ISSN: 0340-6717 [Print] Germany
• PMID: 1709913 (Publication Type: Journal Article)

Chemical References

• Aldosterone
• DNA
• Deoxyribonuclease HpaII
• Deoxyribonucleases, Type II Site-Specific

Topics

• Adult
• Aldosterone (deficiency, genetics)
• Autoradiography
• Blotting, Southern
• DNA (genetics)
• Deoxyribonuclease HpaII
• Deoxyribonucleases, Type II Site-Specific
• Female
• Humans
• Infant, Newborn
• Male
• Mutation
• Pedigree