Sentence examples for mutation together with from inspiring English sources

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.

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.

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.

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

Considering that the C-to-T transition is the most frequent kind of mutation, together with the −1 bp deletion in G5SSR426, this Glutamine codon distribution might contribute to the generation of stop codons at the periplasmic domain of mucA.

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.

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

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

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