Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two subtypes of muscular dystrophy diseases caused by pathogenic mutations in the DMD gene. Until now, more than 4,600 disease-causing mutations in DMD have been reported. However, only 33 mutations were deep intro...

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Detalles Bibliográficos
Autores principales: Lu, Xinguo, Han, Chunxi, Mai, Jiahui, Jiang, Xianping, Liao, Jianxiang, Hou, Yanqi, Cui, Di
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085517/
https://www.ncbi.nlm.nih.gov/pubmed/33936175
http://dx.doi.org/10.3389/fgene.2021.657040

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