Because each parent, as a silent carrier, contributes one mutated gene, many children with the disease have two separate defects — for example, a misshapen CFTR mutation and a nonsense mutation, or a misshapen CFTR and a rusty-gate type of mutation.
Each mutation or a combination of these mutations increased the virulence of H9N2 virus in chickens and mice (Sun et al., 2013b).
We used DNA sequencing to investigate the possibility that the unexpected constitutive flocculent phenotype resulted from either a mutation or a deletion in the pEPG1 promoter.
Upon initial diagnosis of retinoblastoma, rapid identification of whether it is a germline RB1 mutation, sporadic RB1 mutation or a RB1+/+ MYCNA is necessary for correct treatment, as well as risk assessment for patents and their families [12].
In this study, we compared the effect of striatal injection of high-capacity adenoviral vectors expressing either a kinase-overactive LRRK2 with the familial G2019S mutation or a kinase-inactive LRRK2 variant in young and old C57BL/6J mice.
Every now and then, a mutation or a bit of newly acquired DNA enables the microbes to detoxify antibiotics, pump them out of the cells, or render them harmless in another way.
In 20% of endometrial hyperplasias and 50% of endometrioid cancers, PTEN suffers a loss-of-function mutation or a null mutation, making it less effective or completely ineffective.
The change is either a result of selection favoring a recent mutation or a previously rare genotype.
First, almost all were confirmed with either more than one point mutation or a combination of a point mutation and a deficiency.
The immune escape mutation (as a consequence of a true mutation or a re-assortment [19]) generates a new antigenic cluster called the mutant.
A lower MAF usually corresponds to a "younger" ancestral mutation, or a stronger LD with nearby markers, provided recombination plays a primary role in LD decay.
