Sentence examples for mutation and small from inspiring English sources

Sequencing analyses reveal that point mutation and small intragenic deletion/insertion of p53 gene are significantly associated with DNMT1 protein overexpression [ 32].

Interestingly, one of these (patient 11) was the first patient with WS2 who was found to carry two MITF mutations (missense mutation and small deletion) within the same gene copy.

Overall, plasma metabolomics concentration profile results indicate that that high-fat diet significantly enhances some of the metabolic perturbations that are associated with Apc Min/+ mutation and small intestine tumor development.

Screening for mutation and small insertions/deletions was performed by PCR-amplification and subsequent sequencing of all the exons of the coding region of ATM [GenBank: NT 033899] as well as the previously described bidirectional promoter area [ 17].

A subset of the CBC patients described in this study had been screened in the past for ATM truncating mutations with the Protein Truncating Test, revealing seven ATM truncating mutations (including a non-sense mutation and small insertions and deletions; generating stop codons within a previously functional protein coding sequence causing premature termination of translation of the protein) [ 10].

Allelic discrimination has previously been used to genotype frame shift and point mutations, and small insertions or deletions six base pairs in length, but not large deletions.

Mutation analysis using λ phage-based cII and lacI/lacZ-assays is limited to non-transcribed sequences and detection of base mutations and small insertions/deletions.

We monitored the effects of various mutations and small deficiencies on TPE in flies heterozygous for the 39C-5 insert by visually scoring the amount of pigment.

When studying paternal mutations, cII and lacI/lacZ are suitable targets since paternal mutations most often are base mutations and small insertions/deletions. Furthermore these genes are non-transcribed and during spermatogenesis transcription ceases for a number of genes.

In this study, we determined by high-throughput resequencing and array comparative genomic hybridization (CGH) that point mutations and small deletions in chromosome 5q31.2 genes are not common events in de novo MDS.

While deviations from the expected sequence are observed they are restricted to point mutations and small indels which can be attributed to the fidelity of the polymerases used for the PCR amplification.