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It is even possible, as demonstrated by SMA, that alterations in only one factor could cause multiple splicing abnormalities, but for the same reasons we might not be able to detect such.
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Multiple AS transcripts have been identified as progression markers, indicating both generalized splicing abnormalities or tumour- and stage-specific events (Venables et al, 2009).
Mutation Screening at the RNA Level of the STK11/LKB1 Gene in Peutz-Jeghers Syndrome Reveals Complex Splicing Abnormalities and a Novel mRNA Isoform (STK11 c. 597^598insIVS4).
Bähring, S. et al. Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.
Each gene-exon is regulated by one or multiple splicing regulators, from which one may hypothesize the existence of an alternative splicing regulatory network (SRN).
It exhibits multiple splicing isoforms and modulates the function of the haematopoietic cells.
Many genes have multiple mRNA (multiple splicing) also ruled out.
To examine the architecture of aberrant splicing in these genes, we classified splicing abnormalities in the top 100 genes and found that 56% had changes in internal exons, 51% in 5′ regions, 36% in 3′ regions and 42% in multiple locations (both internal and terminal) (data not shown).
Those experiments did not reveal splicing abnormalities and provided evidence in favour of a transcription block.
Additionally, sequence of cDNA generated from RNA isolated from skin exhibited no splicing abnormalities (Table S4).
The majority of these splicing abnormalities involve the retention of fetal isoforms of transcripts into adulthood.
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