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Becker Muscular Dystrophy Due to an Inversion of Exons 23 and 24 of the DMD Gene

The use of hybridization-based methods for DMD mutation analysis is increasingly common. We report a case of Becker Muscular Dystrophy in which discrepant results between a PCR-based (SCAIP) and a comparative genomic hybridization assay incompletely characterized the mutation (an inversion of exons...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Flanigan, Kevin M., Dunn, Diane, Larsen, C. Aaron, Medne, Livija, Bönnemann, Carsten B., Weiss, Robert B.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2011
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3404890/
https://ncbi.nlm.nih.gov/pubmed/22006698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.22226
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