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Here, we report on the targeted resequencing of the entire RPS19 locus in 77 DBA and 12 TEC patients not carrying a mutation in exons of the RPS19 gene and we provide a catalog of the genetic variations identified.
TP53 mutation in exons 5-8 was examined in 20 TUBs.
No mutation in exons 5-8 was detected in any of these 38 tissue specimens.
Importantly, the directionality of point mutation in exons and CpG islands showed opposite patterns relative to their corresponding intergenic regions.
Moreover, the directionality of the point mutation in exons and CpG islands were opposite relative to their corresponding intergenic regions, indicating that different forces govern the nucleotide changes.
Activating mutation in exons 18, 19 and 21 of the EGFR gene has proved to be a significant factor in predicting response to EGFR-TKIs in non-small cell carcinoma of the lung.
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Gene mutation analysis revealed a Del-5a.aDel-5a.a1) KIT mutation in exon 11.
Genetic testing showed a point mutation in exon 14 of the ATP1A2 gene.
NOTCH 3 gene testing revealed a heterozygote Arg90Cys mutation in exon 3 (Figure 2B).
c For NCI-H1975 cells, mutations in both exon 20 and 21 are detected; for NCI-H1650 cells, mutation in exon 19 is also detected.
The second patient was homozygous for a deletion mutation in exon 11 (1541delAT).
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