(Q46604906)
Statements
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 (English)
Isao Kuribayashi
Satoshi Nomoto
Guy Massa
Wilma Oostdijk
Jan M Wit
Yutaka Shizuta
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