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Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy

Xu Y, Song T, Li Y, et al. Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy. Journal of clinical laboratory analysis 2020;34:e23142   Abstract BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD […]