Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients

BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X‐linked recessive mode of inheritance. Patients with DMD are usually characterized by weakness of muscle, usually started since childh...

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Detalles Bibliográficos
Autores principales: Zhang, Yan, Yang, Weikang, Wen, Guoming, Wu, Yanxia, Jing, Zhiliang, Li, Dazhou, Tang, Minshan, Liu, Guanglong, Wei, Xuxuan, Zhong, Yan, Li, Yanhua, Deng, Yongjian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503051/
https://www.ncbi.nlm.nih.gov/pubmed/30938079
http://dx.doi.org/10.1002/mgg3.622

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