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The additional observation that various phenotypes must be acquired suggests multiple mutations with no clonal expansion or a mutator mutation (a mutation that generates more mutations) coupled with clonal expansion [ 41].
Case 6, in addition to mutation 985A>G, carried the 347G>A mutation, a mutation previously described as severe [14], [16].
In addition to mutation 985A>G, one MCADD patient was carrier of the 347G>A mutation, a mutation previously described as severe [14], [16], this again is in excellent agreement with a low residual MCAD activity of 1.1%.
In this study we report for the first time of symptomatic GII.4 NoV infection of an individual homozygous for the G428A nonsense mutation, a mutation that previously has been shown to provide complete protection from authentic GII.4 NoV disease [19], [21].
Gene has Mutation: A mutation occurs in or near a gene, usually at a given position.
Mutation: A mutation is an alteration (deletion, insertion, substitution) of nucleotides (DNA, RNA) or amino acids (Protein).
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Heterozygotes, whose red blood cells contain both HbA and HbS, are so strongly protected from malaria 19 20 that the global distribution and the frequency of the βS-mutation a mutation now strongly reflects the historic incidence of death from malaria.
Linkage and molecular genetic analyses, however, revealed two independent mutations: a mutation in one MMR gene (MSH2) and in one BC susceptibility gene (BRCA2).
If the presence of mutation A (allele fraction >5%) predates that of mutation B, mutation A is considered earlier than mutation B (Author response image 5).
At some time during the acquisition of these initial D mutations, a somatic mutator mutation may occur.
Concerning the high rate of mutations it must be differentiated which mutation is causative in the disease (driver mutation) and which is only a bystander mutation (passenger mutation).
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