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Original Article

Adrenal Autoantibodies and Naturally Occuring Mutations in 21-Hydroxylase

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Pages 339-341 | Received 24 Feb 1994, Published online: 07 Jul 2009

References

  • Winqvist O, Karlsson FA, Kampe O. 21-hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet 1992; 339: 1559–1562
  • Bednarek J, Furmaniak J, Wedlock N, Kiso Y, Baumann-Antczak A, Fowler S, Krishnan H, Craft JA, Rees Smith B. Steroid 21-hydroxylase is a major autoantigen involved in adult onset autoimmune Addison's disease. FEBS Lett 1992; 309: 51–55
  • Wedlock N, Asawa T, Baumann-Antczak A, Rees Smith B, Furmaniak J. Autoimmune Addison's disease: analysis of autoantibody binding sites on human steroid 21-hydroxylase. FEBS Lett 1993; 332(1,2)123–126
  • Helmberg A, Tusie-Luna T, Tabarelli M, Kofler R, White PC. R339H and P453S: CYC21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. Mol Endocrin 1992; 6: 1318–1322
  • Owerbach D, Sherman L, Ballard A-L, Azziz R. Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-OH deficiency. Mol Endocrin 1992; 6: 1211–1215

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