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mall mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients

Zimowski JG, Purzycka J, Pawelec M, Ozdarska K, Zaremba J. Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients. J Appl Genet 2021   Abstract In the 164 patients with Duchenne/Becker muscular dystrophy, we found 142 different small mutations including 51 novel mutations not listed in the LOVD, the UMD-DMD, the ClinVar, and […]