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Estimates of the frequency in the general population in the UK suggest a mutational frequency of 1/1000 (Alharbi et al., 2007), making MC4R deficiency one of the most common single-gene disorders.
In this article, we report a 2% mutational frequency of AKT1 (E17K) among 101 endometrial carcinomas.
For example, determining mutation prevalence (for a range of specific mutations, as well as mutational frequency of any single gene), or the frequency at which any particular gene leads to any single phenotype, remains to be defined for most diseases.
Several specific residues for frequent mutations were found and the mutational frequency of reductase domains was much higher than that of heme domains.
Similar to glioma, IDH1 and IDH2 mutations are mutually exclusive, though the mutational frequency of IDH in AML is much lower (23%) (Chou et al., 2011b; Ward et al., 2010).
In endometrial and colorectal tumours, a set of ultra-hypermutators with increased mutational frequency of transversions was associated with somatic mutations in polymerase ɛ [ 44,72].
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There were no compound heterozygous mutations or homozygous mutations in any of these cases, and the mutational frequencies of codons 12, 13, 61, and 146 were 25.4%, 9.2%, 0.4% and 1.3%, respectively.
Morin et al. were the first to report on somatic EZH2 mutations involving exon 15 (EZH2Y641F/N/H/S), with mutational frequencies of ∼22% in germinal center B-cell diffuse large B-cell lymphomas and 7% in follicular lymphomas.
However, it should be noted that the mutational frequencies of CD27- B-cell-derived mutated IgVH rearrangements in pSS were significantly lower than that of their CD27+ memory B-cell-derived counterparts [ 24, 25].
The largest study of IDH mutation analysis in MPN involved 1473 patients and reported IDH mutational frequencies of ∼2% in PV, 1% in ET, 4% in PMF and 22% in blast-phase MPN.
The dynamics of the functionality of QS systems in the clinical strains were correlated to rhamnolipids and elastase production as well as to the mutational frequencies of the isolates.
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