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

A Mayerovà; B Zieger; M Brandis; W von Petrykowski; G Wolff

doi:10.1007/BF01213103

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

Hum Genet. 1991 May;87(1):97-8. doi: 10.1007/BF01213103.

Authors

A Mayerovà¹, B Zieger, M Brandis, W von Petrykowski, G Wolff

Affiliation

¹ Institut für Humangenetik der Universität, Breisacher Strasse 33, Freiburg, Federal Republic of Germany.

PMID: 1709913
DOI: 10.1007/BF01213103

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.

MeSH terms

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

Substances

Aldosterone
DNA
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific