Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases
Author:
Funder
Natural Science Foundation of Hubei Province Project
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1186/s12920-024-01997-2.pdf
Reference30 articles.
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2. Geng C, Zhang C, Li P, et al. Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline. Eur J Hum Genet. 2023;31(5):504–11.
3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2:731–40.
4. Fratter C, Dalgleish R, Allen SK, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 2020;28:1141–59.
5. Kong XD, Zhong XJ, Liu LN, et al. Genetic analysis of 1051 Chinese families with Duchenne/ Becker muscular dystrophy. BMC Med Genet. 2019;20(1):139.
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