The mutation may be in a transcription factor that regulates the activity of EPAS1.
Miasnikova, G.Y. et al. The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.
"The CCR5 mutation may be one and APOBEC3H may be another.
Our prospective findings suggest that individuals carrying the HFE C282Y mutation may be at increased risk of CHD.
Stanford's Bingwei Lu, PhD, and his colleagues have unraveled a molecular pathway though which a frequently occurring mutation may be causing Parkinson's disease.
For example, this mutation may be 100% aggressive, or at least it may be very, very highly aggressively, maybe 90% aggressive or something like that.
This genetically engineered mouse mutation may be a useful tool to test the efficacy of cytokine therapies for SCC in the future.
On haplotype analysis, all of the patients from these five families shared the same haplotype; therefore, the DNAJB2 c.352+1G>A mutation may be a founder event.
It is possible that the decrease in calnexin C-tail binding to the human Cav3.2 III-IV linker region carrying the equivalent GAERS mutation may be channel splice variant specific.
These results provide unequivocal evidence that synonymous mutations can drive adaptive evolution and suggest that this class of mutation may be underappreciated as a cause of adaptation and evolutionary dynamics.
The mode of inheritance may be X-linked, dominant or recessive and the mutation may be chromosomal or mitochondrial.
