Browsing by Subject "Functional characterization"
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Characterization of mutations causing CYP21A2 deficiency in brazilian and portuguese populations
(2022) [Journal article]Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional ...