BiochemistrybioRxivPreprint
Characterization of mutations causing steroid 21-hydroxylase 1 deficiency in Brazilian and Portuguese populations.
M. J. Prado, S. Singh, R. Ligabue-Braun…·A. V. Pandey
The paper characterizes CYP21A2 mutations in Brazilian and Portuguese populations, identifying their effects on protein structure and 21-hydroxylase activity, linking them to specific clinical phenotypes.
DOI 10.1101/2021.12.07.471616