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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Detalles Bibliográficos
Autores principales: Xiao, Tiantian, Wu, Bingbing, Cao, Yun, Liu, Renchao, Cheng, Guoqiang, Wang, Laishuan, Zhuang, Deyi, Zhao, Zhengyan, Wang, Huijun, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246177/
https://www.ncbi.nlm.nih.gov/pubmed/34268379
http://dx.doi.org/10.21037/atm-20-7102

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