Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13353-020-00605-0.pdf
Reference25 articles.
1. Cho A, Seong MW, Lim BC, Lee HJ, Byeon JH, Kim SS et al (2017) Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. Muscle Nerve 55(5):727–734. Retrieved from. https://doi.org/10.1002/mus.25396
2. Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C et al (2007) Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 28(2):183–195. Retrieved from. https://doi.org/10.1002/humu.20422
3. Echevarría L, Aupy P, Goyenvalle A (2018) Exon-skipping advances for Duchenne muscular dystrophy. Hum Mol Genet 27(R2):R163–R172. Retrieved from. https://doi.org/10.1093/hmg/ddy171
4. Emery AE (2002) The muscular dystrophies. Lancet 359(9307):687–695
5. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT et al (2009) Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 30(12):1657–1666. Retrieved from. https://doi.org/10.1002/humu.21114
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