Sentence examples for mutations together with from inspiring English sources

We are also exposed to intrinsic carcinogens, such as oxidative products of metabolism, which can contribute to DNA mutations (together with the intrinsic error rate of our cell's DNA replication and repair machinery) (Liou and Storz 2010).

We review these 33 mutations together with 28 previously published splice site mutations.

Thus, enzyme folding defects due to missense mutations, together with nonsense-mediated mRNA decay seem to be the major molecular mechanisms underlying MPS IIIC.

Table 3 presents the patients with detected CHEK2 mutations together with a description of the clinical response and follow up-data.

SDHD is a potent human tumor suppressor gene, heterozygous missense and nonsense mutations together with loss of heterozygosity (LOH), resulting in tumorigenesis [1].

We found out, for instance, that the HL/F29L fibroblasts and the relate cybrid HL180 carry the 7042T>C/COI and the 14279G>A/ND6 mutations together with the 14484/ND6 canonical LHON mutation [7].

Results: 16.8% of the subjects were homozygous for the C282Y mutation, together with seven C282Y/H63D compound heterozygotes (5.1%).

Generating human iPSCs bearing disease mutation together with an efficient neuronal differentiation strategy may provide an unprecedented tool to study cellular and molecular mechanisms of ALS in human neurons.

We decided to develop a new and rapid multiplex real-time Polymerase Chain Reaction (PCR) in order to detect the V617F mutation together with the inherited prothrombotic mutations of factors F5 and F2.

The combination of non-germline DNA recombination and mutation together with heavy and light chain assembly allows developing variable regions that specifically recognize essentially any antigen they may encounter.

This RT contains the Q151M mutation together with a cluster of four additional mutations (A62V/V75I/F77L/F116Y) [15], [15].