Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.

Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR
J Clin Endocrinol Metab. 1990 70 (5): 1325-9

PMID: 2335573 · DOI:10.1210/jcem-70-5-1325

MeSH Terms (17)

Adolescent Adrenal Hyperplasia, Congenital Aldehyde-Lyases Amino Acid Sequence Base Sequence Blotting, Southern Cytochrome P-450 Enzyme System DNA Mutational Analysis Exons Female Gene Expression Regulation, Enzymologic Genotype Humans Molecular Sequence Data Multigene Family Steroid 17-alpha-Hydroxylase Steroid Hydroxylases

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