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In recent years, highly sensitive assays have been developed that detect HIV-1 drug resistance mutations when present at less than 1% of the viral population.
None of these mutations when present in H5 HA conferred a switch from α2-3 SA binding to α2-6 SA binding using these assays.
One explanation for this is the greater tolerability of nonsense mutations when present in a heterozygote.
In Case I, two non-lethal mutations, when present in the same linear essential pathway, lead to loss of viability.
We reported earlier that, although p53 mutations are rare in solitary cystadenomas, such mutations, when present, are concordant in both components of heterogeneous tumours characterised by a clearly malignant portion contiguous to a morphologically benign lesion (Zheng et al, 1995).
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Both techniques are qualitative, and allow classifying tested individuals as heterozygotes or homozygotes for the mutation, when present.
The small proportion of cells required to achieve a paracrine effect may hinder detection of this mutation, when present.
We have developed a very simple AS-PCR method that could detect the MYD88 L265P mutation when present in >1% of cells and examined the bone marrow cells from five patients with WM (Supplementary Materials).
A previous study by ourselves has shown that using spiked tumour DNA bearing a p53 mutation, the RSM method can detect such mutations even when present among a 10000-fold excess of nonmutated DNA (Jenkins et al, 2001a, 2001b).
Overall, these data support the idea that EGFRtyr1068, as opposed to EGFRtyr1173, marks an EGFR activation state driven by activating EGFR gene mutations; when constitutively present in an EGFR-WT genetic context, such activation state may still portend sensitivity to EGFR TKI even in the absence of EGFR gene mutations.
For example, carrier testing is used to identify people who carry one copy of a genetic mutation that, when present in two copies, can cause a genetic disorder.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com