Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data

BACKGROUND: An elevated level of creatine kinase (CK) is usually the primary screening marker for Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD). This study investigated the clinical application of next-generation sequencing (NGS) in newborns with a possible diagnosis of DMD/BMD i...

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Gepubliceerd in:Ann Transl Med
Hoofdauteurs: Xiao, Tiantian, Wu, Bingbing, Cao, Yun, Liu, Renchao, Cheng, Guoqiang, Wang, Laishuan, Zhuang, Deyi, Zhao, Zhengyan, Wang, Huijun, Zhou, Wenhao
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: AME Publishing Company 2021
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8246177/
https://ncbi.nlm.nih.gov/pubmed/34268379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm-20-7102
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