Listar por tema "Functional characterization"

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    • Characterization of mutations causing CYP21A2 deficiency in brazilian and portuguese populations 

      Prado, Mayara Jorgens; Singh, Shripriya; Braun, Rodrigo Ligabue; Meneghetti, Bruna Valandro; Serrano, Thaiane Rispoli; Kopacek, Cristiane; Monteiro, Karina Mariante; Zaha, Arnaldo; Rossetti, Maria Lucia Rosa; Pandey, Amit V. (2022) [Artículo de periódico]
      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 ...