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The paternal grandmother (I.2) was a carrier for mutation Q215X and the paternal grandfather (I.1) carried mutation R138Q, along with a well-known NPHS2 variant (R229Q).
For INH discrepant isolates, we found that 8/17 (47%) isolates susceptible by DST-MODS but resistant by DST-LJ carried mutation on inhA promoter region (Table 2 and Table 3).
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Most of the mutants carried mutations in marR.
Three mutants (CH1, CH2, and CH7) carried mutations in acrR.
In this study, two mutants (CH1 and CH7) carried mutations in both marR and acrR.
The other two mutants (CH1 and CH7) each carried mutations in both marR and acrR.
Not surprisingly a few cells carried mutations that allowed them to survive.
But all of the deaf children carried mutations on both copies of the gene.
Both lines that exhibited defective dendritic morphogenesis carried mutations in Lis1 (Figure 2D, arrowhead).
Twelve of 17 tumors (70.6%) carried mutations resulting in amino acid changes of translated proteins.
Ten patients carried mutations in the NLRP3 gene (Table 1).
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