Article
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
The Journal of clinical endocrinology and metabolism - 1 Jun 2008
Soardi F C, Barbaro M, Lau I F, Lemos-Marini S H V, Baptista M T M, Guerra-Junior G, Wedell A, Lajic S, de Mello M P
Abstract excerpt
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) CYP21A...
Topics
- Animals
- Brazil
- COS Cells
- Child
- Child, Preschool
- Chlorocebus aethiops
- Enzyme Activation
- Female
- Genetic Testing
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation, Missense
- Scandinavian and Nordic Countries