Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance.

@article{McPhaul1993GeneticBO,
  title={Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance.},
  author={Michael J. McPhaul and Marco Marcelli and Simona 6 Zoppi and James E. Griffin and J Douglas Wilson},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1993},
  volume={76 1},
  pages={17-23}
}
Mutations in the androgen receptor gene cause phenotypic abnormalities of male sexual development that range from a female phenotype (complete testicular feminization) to that of undervirilized or infertile men. Using the tools of molecular biology, we have analyzed androgen receptor gene mutations in 31 unrelated subjects with androgen resistance syndromes. Most of the defects are due to nucleotide changes that cause premature termination codons or single amino acid substitutions within the… CONTINUE READING

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