Sentence examples for mutations and detected from inspiring English sources

Consequently, we also screened TSC2 for mutations and detected 5 mutations in 145 cases (3%).

We also investigated how signaling via the Erk pathway was affected by the F595 mutations and detected that pErk1/2 levels were elevated in nonstimulated sorted cells expressing JAK2 V617F, but decreased once F595A mutation was additionally introduced.

Skoulidis et al. described ACCs of the pancreas in three subjects with BRCA2 germline mutations and detected LOH at the BRCA2 locus in the tumors [ 37].

24 25 List et al analysed 94 patients with MDS for HFE mutations and detected 25.5% of patients heterozygous for H63D, 26 a figure similar to the overall frequency observed in this study.

In a previous study by Huusko et al [ 1], we screened Finnish LFS families for TP53 exon 5-8 mutandons andetecteded two, Tyr220Cys (exon 6) and Asn235Ser (exon 7), both of which appeared to be associated with accumulation of female breast cancer cases in particular.

Ad hoc programs developed in the laboratory were used to annotate SNPs, compare lineage-specific mutations, and detect co-occurred SNPs.

Of course, LD patterns between causative mutation and detected SNP can differ between populations and a much more complex LD structure may exist in the DLY hybrid population.

Extensive resequencing identified several nonsynonymous mutations, and the detected effects on TGR5 structure, expression and function provide valuable insight into the structural biology of the receptor.

Here, all deleterious mutations and VUS detected in our cohort of 101 patients have been confirmed by Sanger sequencing.

PCA and PLS regression were helpful in describing the association between mutations and to detect mutation clusters.

Frameshifts and point mutations were detected and corrected where appropriate.