Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy

BACKGROUND: Duchenne muscular dystrophy (DMD) is an X‐linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease‐causi...

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Detalles Bibliográficos
Autores principales: Xu, Ying, Song, Tingting, Li, Yu, Guo, Fenfen, Jin, Xin, Cheng, Lu, Zheng, Jiao, Li, Chunyan, Zhang, Yingqi, Chen, Biliang, Zhang, Jianfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171295/
https://www.ncbi.nlm.nih.gov/pubmed/31793735
http://dx.doi.org/10.1002/jcla.23142

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