Human Disease-Causing Mutations Affecting RNA Splicing and NMD
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چکیده
Submit Manuscript | http://medcraveonline.com Abbreviations: NMD: Nonsense-Mediated mRNA Decay; ISE: Intronic Splicing Enhancer; ESE: Exonic Splicing Enhancer; ISS: Intronic Splicing Silencer; ESS: Exonic Splicing Silencer; PTC: Premature Termination Codon; ASC: Adenosquamous Carcinoma; NAS: Nonsense-associated Altered Splicing; NASRE: NonsenseAssociated Altered Splicing of a Remote Exon; ASO: Antisense Oligonucleotide; TRIDs: Translational Read-Through-Inducing Drugs
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Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.
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