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This indicates there is a high variability in phenotypes associated by mutations in SNCA, LRRK2, PARK2, PINK1, and PARK7.
Human genome consists of around 21,000 genes [ 31], while most diseases are associated by mutations of only a few genes.
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The p.Ser37Ala substitution caused by rs2273073 is assumed to be tolerated according to SIFT and PolyPhen whereas it is predicted to be disease associated by Mutation taster and SNP&GO.
Further follow up experiments are being designed to test the functions of some of the virulence associated ORFs by mutation studies of S19 and the virulent strains and their responses during infection, and hence they are not part of this manuscript.
Among patients with a viral load persistently >400 copies/ml at week 12 (n=30), 11 developed primary NFV-resistance associated mutations by 108 weeks (stratified log-rank test; P<0.05).
Further, combination therapies are to be developed for tumor ablation [ 144] and inhibition of cancer associated mutations by peptide masking [ 310].
This interaction may be modified by pancreatitis associated trypsinogen mutations.
Notably, this gene expression signature is shared by PPGLs associated with mutations in VHL (Dahia et al. 2005).
Thus by targeting multiple cancer associated human mutations to the appropriate murine epithelia, mice develop tumours that more closely recapitulate the human disease.
The biomedical importance of this protein has been recently pinpointed by studies that have associated point mutations in Ang to neuro-degenerative disease as in the case of amyotrophic lateral sclerosis [ 12- 14].
It should also be pointed out that confirming drug resistance-associated mutations by genetic study could only examine the function of individual gene mutation without taking into consideration the whole genetic background of the strain, while based on the whole genome sequencing studies by us and a few others, there might be no common causes of drug resistance to multiple drugs.
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