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- W4385514152 abstract "Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies." @default.
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- W4385514152 date "2023-08-10" @default.
- W4385514152 modified "2023-09-23" @default.
- W4385514152 title "[Expert consensus on the genetic diagnosis for Dystrophinopathies]." @default.
- W4385514152 doi "https://doi.org/10.3760/cma.j.cn511374-20220523-00347" @default.
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