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

Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR
J Biol Chem. 1989 264 (30): 18076-82

PMID: 2808364

MeSH Terms (19)

Adrenal Hyperplasia, Congenital Aldehyde-Lyases Amino Acid Sequence Animals Base Sequence Cell Line Chromosome Deletion Cytochrome P-450 Enzyme System DNA Female Genes Humans Karyotyping Leukocytes Molecular Sequence Data Mutation Phenylalanine Steroid 17-alpha-Hydroxylase Steroid Hydroxylases

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