CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency

@article{Witchel2000CYP21MI,
  title={CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency},
  author={Selma Feldman Witchel and Rhonda L. Smith and Carlo Enrico Crivellaro and Tha{\'i}s Della Manna and Va{\^e} Dichtchekenian and Nuvarte Setian and Durval Damiani},
  journal={Human Genetics},
  year={2000},
  volume={106},
  pages={414-419}
}
Abstract. Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency is a common autosomal recessive disorder resulting from mutations in the 21-hydroxylase (CYP21) gene. To develop a strategy to screen for the most commonly occurring CYP21 mutations in Brazil, we performed molecular genotype analysis on 73 children with CAH representing 71 unrelated families. The techniques used for CYP21 molecular genotype analysis were: restriction fragment length polymorphism, single-strand… CONTINUE READING

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