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A number of point mutations have previously been identified that significantly increase the thermostability of the enzyme.
All selected mutations have previously been reported (Naas et al. 2007; Haanperä et al. 2008; Oxacelay et al. 2009; Jones et al. 2009; Leinberger et al. 2010; Cohen Stuart et al. 2010; Al-Agamy et al. 2014).
None of the mutations have previously been shown to cause early onset AD, but it may be that these could contribute to risk of late onset AD [18].
For the T242N mutation in TW10, compensatory mutations have previously been published (H219Q, I223V and M228) [27], and so we examined the frequency of these mutations in the different CD4 T cell count strata (Figure 6).
Individuals heterozygous for perforin mutations have previously been studied regarding the activity of their NK cells [4], [27], [28], but changes in cytokine levels have not been reported before.
Therefore, more exons should be sequenced particularly those where other mutations have previously been associated with knockdown resistance in other insects such as the exons 19 and 21 [21].
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Our study group was comprised of individuals in whom only one recessive GJB2 mutation, one del(GJB6-D13S1830) deletior or no mutations had previously been identified by clinical diagnostic testing.
To assess the added clinical diagnostic value of the HHL APEX microarray in its present configuration, this study included individuals for whom only one recessive GJB2 mutation, one del(GJB6-D13S1830) deletior, or no mutations had previously been identified.
Eleven of the mutations had previously been reported as being pathogenic.
Only one of the mutations had previously been reported (c.227delT; p.Leu76GlnfsX53).
Gene mutations had previously been identified in 22 families; the remaining 59 families were analysed by next-generation sequencing.
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