Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

BACKGROUND: Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly. The presence of mosaicism is underestimated du...

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Detalles Bibliográficos
Autores principales: Xie, Yanshu, Luo, Jingsi, Zhong, Jingzi, Liu, Xu, Tang, Jing, Lan, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265099/
https://www.ncbi.nlm.nih.gov/pubmed/36897110
http://dx.doi.org/10.1002/mgg3.2161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265099/
https://www.ncbi.nlm.nih.gov/pubmed/36897110
http://dx.doi.org/10.1002/mgg3.2161

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