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Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing

Zhang K, Yang X, Lin G, Han Y, Li J. Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing. Clinica chimica acta; international journal of clinical chemistry 2019;491:66-73   Abstract Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, inherited neuromuscular disorders, caused by pathogenic variants […]