Sentence examples for a deep mutation from inspiring English sources

Television is currently undergoing a deep mutation, gradually shifting from broadcast diffusion to Internet diffusion.

A deep intronic mutation in the MTRR gene, c.903+469T>C, is the most frequent mutation causing the cblE type of homocystinuria.

This is the first report of a deep intronic mutation in DYSF that alters mRNA splicing to include a mutant peptide fragment within a key DYSF domain.

Here, we describe a germline mouse mutant, named hema6, that develops mild HS due to a deep intronic mutation in ankyrin-1 encoding gene, Ank1, that results in decreased expression of normal ankyrin-1 protein.

In five patients a deep intronic mutation c.1129 5923C>G was identified creating a cryptic splice donor site.

Therefore, a conspicuous finding was a deep intronic mutation affecting DPD pre-mRNA splicing in five individuals.

Our study demonstrates that a genomic deletion affecting DPYD and a deep intronic mutation affecting pre-mRNA splicing can cause severe 5FU-associated toxicity.

The present study showed the presence of a genomic deletion affecting DPYD and for the first time, a deep intronic mutation affecting DPD pre-mRNA splicing.

Subsequently, the presence of a deep intronic mutation was retrospectively analysed in 66 German cancer patients presenting with grade III/IV 5FU-associated toxicity and 137 patients with no or mild toxicity (Supplemental Table 1).

We hypothesized that these patients would carry a large insertion or deletion or a deep intronic splicing mutation as a second pathogenic mutation.

We identified a deep intronic point mutation within intron 44 (44i) that leads to abnormal mRNA and protein structure.