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Since most are likely to be deleterious, rare mutations could account for much of the burden of human disease, the authors say.
The mutations could account for up to 6% of prostate cancer cases, and a test for them could alert at-risk men to be extra vigilant.
This study was designed to determine whether TINF2 mutations could account for the genetic basis of this group.
A recent study suggested that BRCA2 mutations could account for 6% of moderate and high-risk pancreatic cancer families [ 38].
We next considered a more focused possibility that cryptic splice sites created by intronic point mutations could account for a meaningful fraction of mutations in ABCA4.
To determine whether regulatory mutations could account for the reduced expression, we screened the promoter region by sequencing in 20 patients with sporadic disease.
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Since TCF-4 binds to and directly regulates the promoter regions of HD-5 and HD-6, diminished TCF-4 expression, maybe consequent on a genetic mutation, could account for a decrease in both of these defensins.
The ability of SUR1 to alleviate ATP inhibition at Kir6.2 might also contribute to the reduction in ATP sensitivity seen for wild-type channels in the presence of Mg2+: and suppression of this effect by the T294M mutation could account for the lack of change in ATP sensitivity in Mg2+ solution.
However, it is highly improbable that mutation rate variation could account for the observation of nearly identical nuclear genotypes with radically divergent mitochondrial genomes, particularly when putative donors and recipients are identified within the same population (Messenger et al., 2012, Ramírez et al., 2012).
Conclusions: The screening of the entire coding region of the ccr5 gene in all ESN did not revealed no other mutations that could account for resistance to HIV-1 infection.
Because both the Mo7e-p210 celineine and also cells from CML patients may have accumulated secondary mutations that could account for their defective capacity to form FANCD2 foci, in subsequent experiments healthy hematopoietic progenitors consisting in CB CD34+ cells transduced with vectors expressing the BCR/ABL oncogene were used.
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