… In summary, 92% of all human genes have STRs in their exons according to the definition
used in this paper. Despite their short lengths and simple definition STRs capture a large …

… to an antisense moiety that targets an exon by Watson-Crick base … mutation at position +6
of exon 18 (E1694X) causes exon … point mutations that disrupt the ESE cause significant exon …

… restricted to exons and exon–intron boundaries fails to identify the genetic cause of the
disease. Here … indicating that pathogenic mutations can occur deep within the introns of over 75 …

… elements that define exon boundaries. In the final part, we shall then discuss possible
therapeutic targets and strategies to rescue genetic defects of complex splicing systems. …

… The splicing mutation may occur in both introns and exons and disrupt existing splice
sites or … that include RNA/cDNA sequencing and genome or targeted whole gene next-generation …

… A total number of 26 hybrid minigenes were analysed containing site-directed mutations at
two target sequences of the exon: the AAGATGC sequence at the 5′ end from position 12 to …

… To identify mutations associated with genetic diseases, we … of the exons of 193 genes involved
in 103 genetic diseases. To … with six different genetic diseases resulting from six disease-…

… splicing mutations are correlated with disease phenotype and … predicting near-exon intronic
mutations and demonstrate … amplified by primers targeting the first two exons of the minigene …

… excision of exons 8 and 9 in normal human myoblasts, … targeting exon 8, that unequivocally
increase dystrophin above baseline in vitro, and propose that patients with leaky mutations …

… human genetic diseases linked to mutations within exons … exons has drawn attention to
the possibility that these elements are frequent targets of mutations in human genetic diseases. …