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New AAPS Journal article of possible community interest

  • 1.  New AAPS Journal article of possible community interest

    Posted 01-30-2023 13:03
    Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies - The AAPS Journal
    SpringerLink remove preview
    Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies - The AAPS Journal
    Duchenne muscular dystrophy (DMD) is a degenerative muscular disease affecting roughly one in 5000 males at birth. The disease is often caused by inherited X-linked recessive pathogenic variants in the dystrophin gene, but may also arise from de novo mutations. Disease-causing variants include nonsense, out of frame deletions or duplications that result in loss of dystrophin protein expression.
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    Ho-Leung Fung Ph.D., FAAPS
    Editor-in-Chief
    University at Buffalo
    Sarasota FL
    [email protected]

    Disclaimer: Opinions expressed are solely my own and do not express the views or opinions of my employer.
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