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.
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| Description | scientific article published on 15 July 2005 |
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author: Bruce H Wolffenbuttel |
| Publication date | July 15, 2005 |
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