CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).
Nomoto S, Massa G, Mitani F, Ishimura Y, Miyahara K, Toda K, Nagano I, Yamashiro T, Ogoshi S, Fukata J, Onishi S, Hashimoto K, Doi Y, Imura H, Shizuta Y.
Nomoto S, et al. Among authors: miyahara k.
Biochem Biophys Res Commun. 1997 May 19;234(2):382-5. doi: 10.1006/bbrc.1997.6651.
Biochem Biophys Res Commun. 1997.
PMID: 9177280