Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

@article{Dain2002ClassicalAN,
  title={Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.},
  author={Liliana Dain and Noem{\'i} D. Buzzalino and Adriana Oneto and Susana Hayd{\'e}e Belli and Mirta Stivel and Titania Pasqualini and Carolina Minutolo and Eduardo Hern{\'a}n Charreau and Liliana G. Alba},
  journal={Clinical endocrinology},
  year={2002},
  volume={56 2},
  pages={239-45}
}
OBJECTIVE To characterize the molecular basis of the 21-hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease. DESIGN To analyse the frequency of point mutations in the CYP21 gene by DNA amplification and mutation detection. PATIENTS Forty-one patients from 36 nonrelated families: 25… CONTINUE READING