Sentence examples for mutation as one from inspiring English sources

For this report, we initially analyzed all families without a demonstrable BRCA mutation as one group, from now on referred to as "the total series".

When all individuals with the disease genotype have the disease, we describe such a mutation as one hundred percent penetrant.

The results of the cfDNA analysis were expressed as the ratio of each PIK3CA mutation to wild‐type because ddPCR could identify a heterogeneous mutation as one event.

In 2014, Ando et al. described the role of this mutation as one that converts a segment of fabG1 into an alternative promoter for inhA and hence increases its expression level, suggesting these mutations may be important for next generation molecular diagnostics.

Counting multiple reports of the same mutation as one distinct gene alteration, missense alterations are the most frequently reported distinct alterations in GALNS from patients with Morquio A: distinct missense alterations account for 185 (67%) of the 277 reported distinct gene alterations, in close agreement with other published results [Tomatsu et al., 2005b; Hendriksz et al., 2013a].

After FlpE-mediated excision of the NeoR cassette, the final targeted allele (FTA) had the D320K mutation as well as one remaining Frt site.

Two (22.2%) of the nine HPV-positive carcinomas were found to contain p53 mutations as well; one contained HPV 16 DNA sequences and showed p53 mutation in exon 8/9, and the other was HPV 6/11 positive with the mutation in exon 5/6.

For each mutation we also state the frequency of all samples, the frequency of all samples with at least one mutation, as well as the relative frequency at the given position.

The sequence identity and the fact that the sequence of the pseudogene has not accumulated any mutations, as one would expect for a non functioning gene suggests a very recently duplication.

This analysis gives additional support to the interpretation of correlated mutations as "one mutation followed by a compensatory mutation".

Two affected relatives had inherited identical mutations as one of the recurrent somatic mutations found in APAs, substituting arginine for glycine at position 151 (G151R).