Sentence examples for mutations present more from inspiring English sources

Thus, early truncation of the protein cause profound hearing loss, whereas missense mutations present more variable phenotypes since they can modify the trafficking, the docking between hemichannel, the permeation or conductance properties of the channels or their gating properties (14, 15).

Patients with a SNCA triplication or the A53T missense mutation have an earlier age at onset (around 34 years), and carriers of a triplication, the A53T or the E46K missense mutation, present more frequently with dementia than duplication carriers or carriers of the A30P missense mutation.

Additional breeding with the mdx mutation demonstrated that the mdx mutation presents more severely when bred onto the D2 background [ 15].

There was an overlap with mutations present at more than one site.

Our results show that the number of mutations appearing in only one isolate is high at 349 (see supplementary Table S3); however, those mutations present in more than two isolates are much lower and appeared relatively stable.

In fact, applying a consensus approach (which considers only the mutations present in more than 50% of the sequence reads) the population at T0 differed from the isogenic reference genome at only 12 positions.

Interestingly, mutations were present more frequently in tumours with EGFR expression (33% P=0.016) and higher nuclear grade (P=0.043), but there was no correlation with p110 α protein expression.

In addition, Paez et al found that these mutations were present more frequently in adenocarcinomas, female gender, and patients from Japan in a cohort of 119 patients who were not treated with gefitinib.

81 Furthermore, whereas EGFR mutations are present more frequently in East Asian populations than in Caucasians, no ethnic differences in the frequency of EML4-ALK among NSCLC patients have been reported.

Yet forensic DNA experts say the mutation described is actually one called 315.1C; it is a very common mutation present in more than 90% of humans of European descent and does little to implicate Kosminski.

In fact, patients carrying the P253R mutation present with more severe syndactyly (Slaney et al., 1996).