Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. [electronic resource]
- The Journal of clinical investigation Aug 1991
- 519-23 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9738
10.1172/JCI115334 doi
Adrenal Hyperplasia, Congenital--enzymology Amino Acid Sequence Animals Base Sequence Cell Line Heme--metabolism Humans Kinetics Molecular Sequence Data Mutagenesis, Site-Directed Mutation Oligonucleotides Sequence Alignment Steroid 21-Hydroxylase--chemistry Structure-Activity Relationship Transfection