Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.

@article{Lee2008LowFO,
  title={Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.},
  author={Henry H Lee and Yann-Jinn Lee and Yinji Wang and Hsiang-Tai Chao and Dr. Hedong Niu and Mike Chao and Fuu-Jen Tsai and Fuchuan Lo and Sen Lin},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={93 4},
  pages={
          450-7
        }
}
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder which causes more than 90% of CAH cases due to defects in the steroid 21-hydroxylase gene (CYP21A2). The frequency of large mutations was determined in 200 ethnic Chinese (i.e., Taiwanese) CAH patients belonging to 200 families with different clinical forms of CYP21A2 deficiency over 10 years of molecular diagnoses. For a large-gene deletion (or conversion) and the CYP21A2 deletion identification, a PCR product… CONTINUE READING
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