Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort

Background: Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessively inherited neuromuscular disorders caused by deletions, duplications, or small mutations in the DMD gene. With advances in prenatal diagnosis decreasing the number of affected offspring from carrier mothers, the fre...

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Detalles Bibliográficos
Autores principales: Lin, Jinfu, Li, Huan, Liao, Ziyu, Wang, Liang, Zhang, Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375267/
https://www.ncbi.nlm.nih.gov/pubmed/34421809
http://dx.doi.org/10.3389/fneur.2021.714677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375267/
https://www.ncbi.nlm.nih.gov/pubmed/34421809
http://dx.doi.org/10.3389/fneur.2021.714677

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