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Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle BiopsiesNARA Subscribed
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. There is currently no cure for D...
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