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Lewis, P. W. et al. Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma.
A tauopathy mouse model overexpressing the 1N4R human tau isoform carrying the P301S mutation found in patients with frontotemporal dementia.
He used gene-editing technology to introduce a mutation found in Neanderthal genomes to a modern human stem cell.
To report a novel mutation found in a family with hand-foot-genital syndrome (HFGS).
* A mutation found in 1percentt of Caucasians that can protect against H.I.V. seems to lead to a worse outcome for people with the hepatitis C virus.
Manifestation of intestinal obstruction is not always related to the type of CFTR mutation found in patients as is the case with pancreatic insufficiency10.
The modification was intended to mirror a natural mutation found in a small percentage of people which makes them resistant to the virus.
The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Furthermore, P6-55 was capable of inhibiting the elevated basal PI3K activity of H1047R, a hotspot mutation found in many types of human cancers.
The only known natural mutation found in mature human IAPP is a Ser20-to-Gly missense mutation, found with small frequency in Chinese and Japanese populations.
(c) ATPase-dead K785R mutant (K798R in some citations), a cancer mutation found in the ATP-binding cleft) shows a dramatic dynamic defect, consistent with failure to release immobile chromatin.
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CEO of Professional Science Editing for Scientists @ prosciediting.com