Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.

@article{Laflamme1996MutationRI,
  title={Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.},
  author={Nathalie Laflamme and James P. LeBlanc and Jacques Mailloux and Nacia Faure and Fernand Labrie and Jacques Simard},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1996},
  volume={81 1},
  pages={264-8}
}
Congenital adrenal hyperplasia (CAH) is the most frequent cause of adrenal insufficiency and ambiguous genitalia in newborn children. In contrast to CAH caused by 21 alpha-hydroxylase and 11 beta-hydroxylase deficiencies, which impairs steroid formation in the adrenal exclusively, 17 alpha-hydroxylase/17,20-lyase deficiency impairs steroid biosynthesis in the adrenals and gonads. The sequence of CYP17 gene was determined by direct sequencing of asymmetric PCR products in two French-Canadian 46… CONTINUE READING

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