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Exon 18 mutations are extremely rare comprising of 4.1% of all EGFR mutations and the delE709_T710insD mutation accounts for only 0.16% of mutations when occurring as a sole mutation, however, the frequency can vary with the kit utilized for testing.
In addition, bypass efficiency is significantly lower both for the I38A mutation of the roof-aa and for the adjacent A39T mutation; however, the I38A/A39T double mutant is almost as active as wild-type UmuC V), which probably reflects the following.
In familial cases of breast cancer lacking a BRCA1/ BRCA2 mutation, however, the frequency of the hCHK2 1100delC mutation was significantly elevated, at 5.1% (P = 0.00000003).
Microdissection of the surrounding Barrett's epithelium revealed a p53non-sensenon-senseutation; however, the underlying squamous island and contiguous oesophageal gland squamous duct were p53 wild-type, indicating the presence of a different clone to the surrounding Barrett's dysplasia.
Interestingly, the rhesus monkey Ugt1a7 in the whole-genome-shotgun traces has no stop codon mutation; however, the Ugt1a7 in the finished BAC clone (Accession No. AC171066.4) has a stop codon at coding position 670.
In the case of a co-recessive mutation, however, the new intermediate character will be expressed in half the offspring of the founding individual, and the founding population will thus necessarily be comprised mostly by brother-sister matings, or close cousins at best.
Similar(53)
Background Multiple congenital melanocytic naevi (CMN) in one individual are caused by somatic mosaicism for NRAS mutations; however, the lineage of the mutated cells remains uncertain.
LNA-PCR sequencing confirmed all 51 PIK3CA mutations; however, the mutation detection rate by standard Sanger sequencing was only 69% (35 of 51).
Furthermore, multiple preclinical studies have focused on identifying synthetic lethal interactions with KRAS mutations; however, the majority of these synthetic lethal interactions have not been reproducible [55].
In the presence of compensatory mutations, however, the competitive interference between wild-type and resistant strains is more complex.
Among random nucleotide mutations in ORFs, 3.4% would be expected to be nonsense mutations; however, the distribution of nonsense SNPs has not been evaluated or reported.
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