Michael Waterman
Faculty Member
Last active: 2/12/2015

Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17 alpha-hydroxylase cytochrome P-450.

Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR
Mol Cell Endocrinol. 1988 59 (3): 249-53

PMID: 3263289 · DOI:10.1016/0303-7207(88)90110-4

MeSH Terms (20)

Adrenal Cortex Adrenal Hyperplasia, Congenital Adult Aldehyde-Lyases Amenorrhea Amino Acid Sequence Base Sequence Blotting, Southern Codon Cytochrome P-450 Enzyme System Exons Female Humans Hypertension Molecular Sequence Data Mutation Osteoporosis Ovary RNA, Messenger Steroid Hydroxylases

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