Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

@article{Curnow1993MutationsIT,
  title={Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.},
  author={Kathleen M. Curnow and Laurence Slutsker and Jiri Vitek and Trevor Cole and Phyllis W. Speiser and Maria I. New and Perrin C White and Leigh Pascoe},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1993},
  volume={90 10},
  pages={4552-6}
}
Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is the second most common cause of congenital adrenal hyperplasia and results in a hypertensive form of the disease. The 11 beta-hydroxylase enzyme is encoded by the CYP11B1 gene on chromosome 8q22. Two mutations in CYP11B1 have previously been reported in patients with 11 beta-hydroxylase deficiency--Arg-448-->His and a 2-bp insertion in codon 394. We now report eight previously uncharacterized mutations… CONTINUE READING
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