Sentence examples for mutations documented in from inspiring English sources

In particular, nonsense mutations occurring in codon 1443 are among the most common mutations documented in the BIC.

It is well recognized that EGFR dysregulation is a powerful oncogenic driver with overexpression and activating mutations documented in numerous tumors of epithelial origin [ 44].

The distribution of types of mutations documented in non-laboratory animals is fairly similar to that in humans, with almost half being missense or non-sense mutations.

The nuclear gene mutations documented in mouse brain tumors and melanomas were also detected in the normal embryonic tissues of the mice derived from the tumor nuclei (47, 48).

For the purposes of analysis, we selected 13 disease states with at least two related genes in OMIM and at least nine promoter mutations documented in HGMD for model evaluation.

It is unlikely that just examining exons 5 8 missed many mutations, as >90% of the mutations documented in a wide range of tumours are found within this region (Hamelin et al, 1994; www.iarc.fr).

Strains with the following promoter mutations were analysed: A7G in MO036 and A72G in MO034 were mutations documented only in laboratory strains, but not in clinical isolates.

Pathogenic mutations were defined as mutations previously documented in patients with PCD; or nonsense, frameshift and splice-site mutations resulting in loss-of-function.

Because it has been demonstrated that ~80% of the somatic mutations documented for PIK3CA clustered in the helical domain (exon 9) and kinase domain (exon 20) [ 12], here we only analyzed the DNA sequences of the exons 9 and 20 of the PIK3CA gene.

We screened a cohort of 800 individuals with nephronophthisis with retinopathy, and found four carrying the M1 mutation, close to the predicted 0.0036 expected carrier frequency and no convincing second mutations were documented in this cohort.

Noteworthily, no H3.3 mutations were documented in cerebellar HGG, so it is unlikely that a high incidence of the K27M H3.3 mutation might explain the poor prognosis of the cerebellar subset.