New therapeutic approaches to mendelian disorders.

@article{Dietz2010NewTA,
  title={New therapeutic approaches to mendelian disorders.},
  author={Harry C. Dietz},
  journal={The New England journal of medicine},
  year={2010},
  volume={363 9},
  pages={
          852-63
        }
}
  • Harry C. Dietz
  • Published in
    The New England journal of…
    2010
  • Medicine
  • Thanks to the power of a method to identify etiologic mutations (and hence “causative” genes) in mendelian disease, the molecular mechanisms that give rise to many such diseases are now known. This knowledge has fueled new therapeutic approaches, which are reviewed in this article, the third in the Genomic Medicine series. 

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    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 74 REFERENCES

    Func - tional basis of protection against age - related macular degeneration conferred by a common polymorphism in complement factor B

    • T Montes, A Tortajada, CL Harris
    • Proc Natl Acad Sci U S A
    • 2009

    Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression.

    Octa-guanidine morpholino restores dystrophin expression in cardiac and skeletal muscles and ameliorates pathology in dystrophic mdx mice.

    • Bo Wu, Yongfu Li, +3 authors Qi Lu
    • Biology, Medicine
    • Molecular therapy : the journal of the American Society of Gene Therapy
    • 2009