Sentence examples for mutations in introns from inspiring English sources

There has been only few reports of disease-causing mutations in introns that cause missplicing by inducing inclusion of intronic sequences as exons (pseudoexon inclusion) [ Buratti et al., 2006], and the vast majority of this type of mutation functions by strengthening of preexisting weak pseudosplice sites or by creating new splice sites.

Similarly, disease-causing mutations in introns that cause missplicing by inducing the inclusion of intronic sequences as exons (pseudoexon inclusion) and function by strengthening of preexisting weak pseudosplice sites or by creating new splice sites have been discovered [ 49– 51].

A mere handful of significant mutations in introns were known up to this point.

The location of the mutations in introns complicated acceptance of the researchers' findings and was one reason their article was held up for roughly 19 months while reviewers pored over it.

Mutations in introns give rise to cystic fibrosis, breast cancer or forms of anemia.

Mutations in introns and intergenic regions are designated "Non-coding".

Since mutations in intron regions were invisible in ESTs and some rare SNPs were not shown in mSNP, the number of TSVs contributed by allelic gene variations is expected to be higher than the prediction.

Genetic studies showed mutations in intron 9 of WT1 gene c.

Recently, mutations in intron have been reported to lead to transcriptional dysregulation 25.

Thus, most newly arisen mutations in intron splice sequences are deleterious and are eliminated by purifying selection, although some mildly deleterious alleles may attain appreciable frequencies.

Previously reported COL9A3 mutations were splice site acceptor or donor mutations in intron 2 or 3, that invariably resulted in skipping of exon 3 of COL9A3 [ 17, 19] with deletion of 12 amino acids in the COL3 domain of COL9A3.