Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genetic testin...

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Dettagli Bibliografici
Pubblicato in:Ann Clin Transl Neurol
Autori principali: Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Brief Communications
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7545597/
https://ncbi.nlm.nih.gov/pubmed/32951359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51201
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