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A Non-Invasive Diagnostic Assay for Rapid Detection and Characterization of Aberrant Mrna-Splicing by Nonsense Mediated Decay Inhibition.

Friederike Haeuser,Seyfullah Goekce, Gesa Werner,Sven Danckwardt,Stefanie Sollfrank,Carolin Neukirch, Vera Beyer,Julia B. Hennermann,Karl J. Lackner,Eugen Mengel,Heidi Rossmann

Molecular Genetics and Metabolism（2020）

引用 8|浏览28
关键词
Splicing variant,Nonsense mediated decay,Pompe disease,NMD inhibition
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