Sentence examples for mutations which account from inspiring English sources

We further identified three highly prevalent USP8 mutations, which account for the vast majority of mutated cases (77.61%).

However, the effects of missense mutations, which account for around 53% of IIN mutations, have not been investigated.

Missense mutations, which account for 38% of all MSH6 mutations, are particularly challenging in the clinical management of patients with suspected HNPCC.

The spectrum of FH mutations in Europe varies between countries, from Greece with only six mutations, which account for 60% of FH in the country, to the Netherlands with one of the most heterogeneous spectrum [8,9].

10 In a recent OCT study, we found a normal RNFL profile among patients harbouring SPG4 mutations, which account for ∼40% of all autosomal-dominant cases of hereditary spastic paraplegia.

TR is an attractive alternative gene-based therapy for in-frame nonsense mutations, which account for at least 12% of all hereditary disease-causing mutations (Hainrichson et al, 2008; Kellermayer, 2006; Keeling & Bedwell, 2011; Linde & Kerem, 2008; Overlack et al, 2011).

This screening led to the discovery of mutations in 52 families (seven distinct mutations), which accounted for 88% of all positive families identified before July 2003.

This reanalysis enables us to estimate a spontaneous rate of SV mutations, which accounts for all mutations that are not single-base substitutions or short indels, in E. coli K-12 MG1655 of 0.00042 mutations per genome per generation (with a Poisson 95% confidence interval from 0.00032 0.00055).

According to our previous investigation on the spectrum of KRAS genotypes in our database of CRC cases, the most frequent mutations at KRAS codon 12 were the G12D, G12V, G12R, G12C, G12S and G12A mutations, which accounted for more than 95% of the codon 12 mutations.

The drug was the first "personalised" treatment for melanoma, designed to target cases of the disease carrying the faulty gene, called a BRAF mutation, which account for about half of all cases.

The most common mutation, which accounts for 53% of HFI alleles identified worldwide, results in substitution of Pro for Ala at position 149.