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This C-terminal movement was facilitated and hindered by specific mutations in parallel with experimentally observed facilitation and inhibition of fusion.
A switch in receptor specificity from avian α-2,3 SA to human α-2,3 SA receptors, whumancan be acquired by specific mutations in the receptor binding site (RBS) of the HA, is expected to be necessary for an avian virus to become transmissible and, thus, gain the potential to become pandemic in humans.
Upregulation of Wnt signaling, mediated by specific mutations in the APC or ß-CATENIN genes, is thought to play a critical role in the development of several gastrointestinal tumors [18], [19].
It is caused by specific mutations in gyrase and topoisomerase IV that weaken interactions between quinolones and these enzymes.
These findings indicate that the propensity to form filaments can be modulated by specific mutations in Gln1.
Non-syndromic deafness and predisposition to aminoglycoside-induced deafness can be caused by specific mutations in the 12S rRNA gene of mtDNA and are thus maternally inherited traits.
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Notably, lethal neonatal laminopathies have now been identified and are caused by some specific mutations in the LMNA and ZMPSTE24/FACE-1 genesuggestinging that certain developmental abnormalities may be involved in some cases [15] [16] [16].
Both alleles in the chimpanzee are characterized by species specific mutations in the ABO gene that are distinct from those found in humans [ 3].
However, the mechanism by which specific mutations in human tRNase ZL lead to an increased risk of prostate cancer remains unknown.
These patients originated from consanguinous families, and were shown to have a complete absence of pro- and active MMP-2 in serum, explained by 2 specific mutations in the MMP-2 gene (Martignetti et al. 2001).
The study is dominated by women with three specific mutations in BRCA1 that represent the three founder mutations found in the Polish population [ 1], with over one-half being the single mutation 5382insC.
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