Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy

The precise identification of pathogenic DMD variants is sometimes rather difficult, mainly due to complex structural variants (SVs) and deep intronic splice-altering variants. We performed genomic long-read whole DMD gene sequencing in a boy with asymptomatic hyper-creatine kinase-emia who remained...

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Detalles Bibliográficos
Autores principales: Xie, Zhiying, Liu, Chang, Lu, Yanyu, Sun, Chengyue, Liu, Yilin, Yu, Meng, Shu, Junlong, Meng, Lingchao, Deng, Jianwen, Zhang, Wei, Wang, Zhaoxia, Lv, He, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453646/
https://www.ncbi.nlm.nih.gov/pubmed/36092865
http://dx.doi.org/10.3389/fgene.2022.979732

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