Aldosterone deficiency II (CMO II deficiency) is not the result of a mutation of an MspI restriction site within the CYP11B gene.
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.
Mayerovà
A
A
Institut für Humangenetik der Universität, Breisacher Strasse 33, Freiburg, Federal Republic of Germany.
Zieger
B
B
Brandis
M
M
von Petrykowski
W
W
Wolff
G
G
D000328:Adult; D000450:Aldosterone / Q000172:deficiency* / Q000235:genetics; D001345:Autoradiography; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree
D000450:Aldosterone; D004247:DNA; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific