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. [electronic resource]
Producer: 20051011Description: 284-93 p. digitalISSN:- 0301-0163
- Adrenal Hyperplasia, Congenital -- enzymology
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Child, Preschool
- Chlorocebus aethiops
- Cytochrome P-450 CYP11B2 -- genetics
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense
- Recombinant Fusion Proteins -- genetics
- Sequence Alignment
- Steroid 11-beta-Hydroxylase -- biosynthesis
- Zona Fasciculata -- enzymology
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Publication Type: Case Reports; Journal Article
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