Variable expressivity and mutation databases: The androgen receptor gene mutations database

@article{Gottlieb2001VariableEA,
  title={Variable expressivity and mutation databases: The androgen receptor gene mutations database},
  author={B. Gottlieb and L. Beitel and M. Trifiro},
  journal={Human Mutation},
  year={2001},
  volume={17}
}
  • B. Gottlieb, L. Beitel, M. Trifiro
  • Published 2001
  • Biology, Medicine
  • Human Mutation
  • For over 50 years genetics has presumed that variations in phenotypic expression have, for the most part, been the result of alterations in genotype. The importance and value of mutation databases has been based on the premise that the same gene or allelic variation in a specific gene that has been proven to determine a specific phenotype, will always produce the same phenotype. However, recent evidence has shown that so called “simple” Mendelian disorders or monogenic traits are often far from… CONTINUE READING
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