Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.

@article{Tajima1998MutationsOT,
  title={Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.},
  author={Toshihiro Tajima and Kenji Fujieda and Jun Nakae and Atsushi Mikami and Gordon B. Cutler},
  journal={Endocrine journal},
  year={1998},
  volume={45 4},
  pages={
          493-7
        }
}
To determine whether nonclassical steroid 21-hydroxylase deficiency in Japan has the same molecular basis as in western countries, we have characterized the mutations of the CYP21 gene in 7 Japanese patients with nonclassical (NC) steroid 21-hydroxylase deficiency. In the Japanese NC cases the P30L was present in one allele in 5 of the 7 patients and on both alleles in one patient. By contrast, the V281L mutation, which was present in about 60% of NC cases in western countries, was not… CONTINUE READING

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