Characterization of mutations causing steroid 21-hydroxylase 1 deficiency in Brazilian and Portuguese populations.
M. J. Prado, S. Singh, R. Ligabue-Braun, B. V. Meneghetti, T. Rispoli, C. Kopacek, K. Monteiro, A. Zaha, M. L. R. Rossetti, 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.
bioRxiv · Dec 7, 2021 · PreprintBiochemistry