Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele

Isao Kuribayashi, Satoshi Nomoto, Guy Massa, Wilma Oostdijk, Jan M. Wit, Bruce H.R. Wolffenbuttel, Yutaka Shizuta, Koichi Honke

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