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A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene.
J Clin Lab Anal. 2018 Oct;32(8):e22575. doi: 10.1002/jcla.22575. Epub 2018 May 25.
J Clin Lab Anal. 2018.
PMID: 29802662
Free PMC article.
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.
Zhu Y, Deng H, Chen X, Li H, Yang C, Li S, Pan X, Tian S, Feng S, Tan X, Matsuo M, Zhang Z.
Zhu Y, et al.
Hum Genet. 2019 Jul;138(7):771-785. doi: 10.1007/s00439-019-02036-2. Epub 2019 Jun 5.
Hum Genet. 2019.
PMID: 31168774
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