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Research Article

A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome

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Pages 707-708 | Published online: 04 Sep 2012

References

  • Brinkmann AO. 2001. Molecular basis of androgen insensitivity. Molecular and Cellular Endocrinology 179:105–109.
  • HeB, Kemppainen JA, Wilson EM. 2000. FXXLF and WXXLF sequences mediate the NH2-terminal interaction with the ligand binding domain of the androgen receptor. Journal of Biological Chemistry 275:22986–22994.
  • Philibert P, Audran F, Pienkowski C . 2010. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Fertility and Sterility 94:472–476.
  • Quigley CA, De Bellis A, Marschke KB . 1995. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrine Reviews 16:271–321.

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