First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

BACKGROUND: The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients fr...

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Detalles Bibliográficos
Autores principales: Xie, Zhiying, Sun, Chengyue, Liu, Chang, Chu, Xujun, Gang, Qiang, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Li, Fan, Xia, Dongliang, Wang, Li, Li, Ying, Deng, Jianwen, Lv, He, Wang, Zhaoxia, Zhang, Wei, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9257024/
https://www.ncbi.nlm.nih.gov/pubmed/35813381
http://dx.doi.org/10.3389/fped.2022.900280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9257024/
https://www.ncbi.nlm.nih.gov/pubmed/35813381
http://dx.doi.org/10.3389/fped.2022.900280

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