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This finding is important because p53 mutations are very common in STS, and p53-mutated STS are more therapeutically resistant [91].
Some of these mutations are very common in certain areas, including parts of Asia and Africa.
These mutations are very useful for classical genetic studies as well as for modern techniques including functional genomics.
That the same genes are at work in many breeds indicates that these mutations are very old.
Mutations in many other genes are known to cause serious disruption of normal iron metabolism (e.g. HFE2, HAMP, SLC40A1, TFR2) but the causal mutations are very rare [33].
This suggests that new arisen mutations are very unlikely in SCA10, which is supported by the restricted geographic origin of SCA10 families.
Similar(11)
Omitting tRNA modifications had little affect, but anticodon mutations were very inhibitory.
In lung cancer, the average number of mutations is very high with more than 8.9 mutations/Mb (Network TCGAR, 2014) that is to say more than 10,000 mutations/genome.
Because disease presentation in these patients with null mutations is very variable, ranging from mild to severe, we conclude that β-mannosidosis in humans may indeed be milder than typical of other lysosomal storage disorders.
Consequently, the cut-off for detection of resistance mutations was very low.
The partitioning of sequence diversity according to lineages marked by slow-causing mutations was very informative.
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