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Exact(5)
To genotype individual larvae in the qRT-PCR analysis (see below), the st67 mutation was again scored via TaqαI cleavage.
The presence of the mutation was again confirmed in mice that were homozygous for D469del (Supp. Fig. S1C).
If the observed nucleotide was A, its ancestral nucleotide was G, and the upstream nucleotide was C, the mutation was again classified as a CpG type.
The same pattern held true for all of the mutations within the triple-helix-forming domain, and the Col4a1 G394V mutation was again significantly different from all others.
If the observed nucleotide was G, its ancestral nucleotide was A, and the upstream nucleotide was C, the mutation was again classified as a TpG type.
Similar(55)
Failure to see more sensitivity introduced with the Pfcam-211T mutation is again most likely due to the presence of both wild-type and mutant PfATP4.
The pattern of base substitutions in the JH4 intronic regions derived from NBS patients (386 mutations) was again different from that in controls (797 mutations) and we confirmed that, as in the VH3-23 therecripts, there were significantly more transversions occurring at G residues (18.9% vs. 13.4%, χ2 test, p<0.01) and G mutations altogether (38.1% vs. 28.9%, χ2 test, p<0.01).
Two sisters with RTPS whose tumors lacked mutations in INI1/SMARCB1 were diagnosed in Germany [ 20]; instead of a mutation in INI1/SMARCB1, mutations were again found in SMARCA4 in both patients.
The I424S and A427D mutations (as well as other SQSTM1 mutations) were again introduced into the wild-type SQSTM1 construct by site-directed mutagenesis and confirmed by DNA sequencing.
Mutations were again biased toward A/T with πA+T = 0.8, and BGC was acting uniformly over the genome, favoring C/G over A/T bases at strength γBGC.
After validating the single copy genes, all validated mutants along with the six previously detected mutations were again used as internal controls for setting the parameters to detect multi-copy genes.
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