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Such mutations affect all the proteins encoded by TP53 transcript variants (Bourdon et al, 2005).
MFS-associated mutations affect all domains of fibrillin-1 and, until recently, few genotype phenotype correlations have been established.
For instance, although the ABCB7 missense mutations affect all tissues, the major phenotype is sideroblastic anemia and ataxia, perhaps suggesting the ABCB7 protein has specific roles in neural and erythroid cells.
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The co-occurrence of 2 mutated genes was observed in 11 cases (KRAS and BRAF in 8/11 cases, KRAS and NRAS in 2/11 cases, NRAS and BRAF in 1/11 cases), whereas mutations affecting all three genes were not found in our cohort.
This system has advantages over existing methods both by permitting direct comparison of the replication capacity of fully replication-competent HCV mutants under identical culture conditions and by measuring effects on replication capacity due to mutations affecting all stages of the viral life cycle including entry and egress.
Mutations affecting all these genes have been identified in Drosophila, as well as transgenes that can convey gain-of-function effects.
TSE is therefore sensitive to mutations affecting all the genes of the germline piRNA pathway tested and thus appears to represents a bona fide piRNA-based repression.
More than 115 disease-causing mutations, affecting all regions of the SOD1 gene product, have been identified.
The driver-nature of the mutations affecting all the mentioned genes leads to gain-of-function that promotes cell survival and prevents apoptosis [ 18].
Mutations affecting all copies of the mtDNA were defined as homoplasmic, whereas those which were present only in a proportion of copies of mtDNA were defined as heteroplasmic.
In vitro experiments testing for activity of the mutant receptor were performed prior to administration of the drug, an important point as not all mutations affect a protein equally.
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CEO of Professional Science Editing for Scientists @ prosciediting.com