Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"splice junction"”.
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Mechanism of resistance to tyrosine kinase inhibitors in philadelphia-positive acute lymphblastic leukaemia (all): from genetic alterations to impaired RNA editing
… technology to detect and quantify splice variants. 41% Ph+ ALL patients expressed high levels of the non DNA-binding dominant negative Ik6 isoform lacking critical N-terminal zinc-fingers which display abnormal subcellular compartmentalization pattern. Nuclear extracts from patients …
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The biochemical and molecular basis of Hypoxanthine-guanine phosphoribosyltransferase deficiency
… a mutation within. intron 6 which created a new splice donor site. The new splice donor site in concert with a cryptic splice acceptor resulted in the creation of a new exon. A deletion of exons 2, 3 and 4 in another patient was found to lead to the alternative splicing of exon 5. These unusual …
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Human ceruloplasmin gene and cDNA
… al., (1986) is produced by use of an alternate splice junctionat the 3' end of exon 18. A 5' cDNA clone that contained 114 by prior to theinitiator methionine was isolated. The clone is produced by splicing of theprimary heteronuclear transcript. The origin of the 5' end of the clone isunmapped …
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The Molecular Mechanism Of The Gwas Association Of The Slc22a1 Locus With Metabolic Traits
… regulatory variants of SLC22A1. We discovered a splice junction variant and further validated its effect on the splicing of SLC22A1 transcript. In conclusion, our studies elucidated the molecular mechanism of the GWAS association at the SLC22A1 locus for serum acylcarnitines. We demonstrated a …
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Novel methods in transcriptome analysis using RNA-seq
… to solve two critical challenges: identifying Splice Junctions (SJs) and annotating gene fusion transcripts. Due to the limited read length of NGS data, it is extremely challenging to accurately map RNA-seq reads to SJs, which is important for the analysis of alternative splicing and isoform …