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Just like most mutations in LGI1 causes the mutated protein to be retained in the cell and degraded, this mutation of LGI2 completely abolishes its secretion (Seppälä et al., 2011).
In our limited analysis, we found most mutations in genes to belong to the PI3K-AKT pathway; mutational activation of this pathway was observed in at least 50% of glioblastomas, similar to findings in other studies [ 48, 63].
Most mutations in the APC gene change the DNA programming to produce a much shorter than normal protein, which cannot perform its usual growth-control function.
Tropical groups, on the other hand, had the most mutations in another gene, COI.
Most mutations in MYO7A gene caused USH1B, whereas only a few reported mutations led to DFNB2 and DFNA11.
Since most mutations in lamin A/C affect skeletal muscle, we investigated lamin chromatin interactions at promoters of muscle specific genes in both muscle and non-muscle cell lines by ChIP-qPCR.
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Most mutations happened in provinces in middle and western China.
This fact was confirmed by nucleotide sequencing which also demonstrated that most mutations resulted in amino acid substitutions.
Viewed by province, Qinghai possesses the most mutations (13) in 2002 2007, and no other province own a mutation number over ten, no matter what year.
Most mutations occurred in loop regions.
It is thought that most mutations act in a dominant negative way or through haploinsufficiency.
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