A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

@article{Lajic1997ACO,
  title={A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction},
  author={Svetlana Lajic and Antti Levo and Andrej Nikoshkov and Yvonne Lundberg and Jukka Partanen and Anna Wedell},
  journal={Human Genetics},
  year={1997},
  volume={99},
  pages={704-709}
}
Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the adrenal cortex and overproduction of androgens. A limited number of mutations account for the majority of mutated alleles, but additional rare mutations are responsible for the symptoms in some patients. A total of 11 missense mutations has previously been implicated in this enzyme deficiency. We describe two novel missense mutations, both… CONTINUE READING