Sentence examples for mutations mutations in from inspiring English sources

Patients with McCune-Albright syndrome have somatic mutations (mutations in body cells as opposed to germ cells) of an intracellular hormone-signaling pathway that cause the pathway to remain constantly active.

With this technique, deep intronic mutations, mutations in regulatory regions, and deletions and duplications involving whole exons cannot be revealed and may be missed.

Particularly, in the three positions where our data set had enough statistical power, we found evidence of associations with HLA alleles: two of them were already identified as potential CTL-escape mutations (Mutations in positions 30 and 83, Table 1) and mutation at position 84 had an OR of 0.34 and a p-value of 0.0716 for association with HLA-A02.

Compared with the accumulative data in AKT1 (E17K) mutations, mutations in AKT2 and AKT3 are not well characterised.

We detected novel regenerant mutations (mutations in R1 samples and not in P1) using methods summarized in Figure S2C.

Unlike most tumour suppressors that are inactivated by deletion or truncation mutations, mutations in p53 most often result in a protein with a single nucleotide substitution.

TP53 mutation, mutations in TP53 called from Illumina sequencing.

42 amino acid mutations and 107 silent mutations (mutation frequency ≥5%) were included in the analysis.

Exon 11 mutations (including point mutations, in-frame deletions and insertions) are the most common KIT mutations; the L576P mutation in particular is found in approximately one third of these melanomas [166,179,180].

Two concurrent mutations were identified in 89 (29%) tumors, 3 mutations in 24 (8%), 4 mutations in 6 (2%), and 5 mutations in 1 tumor.

These are mostly missense mutations or mutations in the promoter region that results in lower efficiency or lower levels of the pRb protein.