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Molecular Diagnosis of 21-hydroxylase (CYP21) Gene mutations in Congenital Adrenal Hyperplasia

Lee HS, Cheon KW, Park YS, Han IK, Kang IS

  • KMID: 2262293
  • Korean J Obstet Gynecol.
  • 2001 Jun;44(6):1171-1177.
OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is most often caused by a deficiency in steroid 21-hydroxylase (21-OH), a microsomal enzyme encoded by the CYP21 gene....
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