Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

@article{Soardi2008InhibitionOC,
  title={Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.},
  author={Fernanda Caroline Soardi and Michela Barbaro and Ivy F Lau and Sofia Helena Valente Lemos-Marini and Maria Tereza Matias Baptista and Gil Guerra-J{\'u}nior and Anna Wedell and Svetlana Lajic and Maricilda Palandi de Mello},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2008},
  volume={93 6},
  pages={2416-20}
}
BACKGROUND Most patients with 21-hydroxylase deficiency carry CYP21A1P-derived mutations, but an increasing number of novel and rare mutations have been reported in disease-causing alleles. OBJECTIVE Functional effects of three novel (p.G56R, p.L107R, p.L142P) and one recurrent (p.R408C) CYP21A2 mutations were investigated. The degree of enzyme impairment caused by p.H62L alone or combined to p.P453S was also analyzed. DESIGN The study included 10 Brazilian and two Scandinavian patients. To… CONTINUE READING
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