Значения термина detect mutations на английском

In none of these cases did we detect mutations in PTEN.

Pyrosequencing is a real time sequencing method able to rapidly detect mutations in a large number of samples.

Traditional techniques such as DNA sequencing are often not sensitive enough to detect mutations in low-abundance tumour cells, including SM.

The aim of the present study was to detect mutations in LCA-associated genes in patients with RP using two different strategies.

The primary outcome is efficacy to detect mutations associated with these syndromes; secondary outcomes include psychosocial impact, cost-effectiveness and comparative costs.

To detect mutations, all 21 exons and the exon-intron junctions of SLC26A4 were sequenced for all subjects.

Results: Our analysis failed to detect mutations within the tyrosine kinase domain of EGFR in the 11 cell lines and 75 patients tested.

Finally, we subjected 11 lung cancer cell lines to nucleotide sequencing and did not detect mutations within the C-terminal RBL2 exons 19-22 as recently reported.

Patients without BEAMing but with previous Sanger sequencing detected mutations were included.

Furthermore, nine of the 15 detected mutations affected the usual splicing pattern at the locus.

Screening of individuals with ADPKD detects mutations in up to 91% of cases.

Furthermore, all the newly detected mutations in patients from the training set have been confirmed by Sanger sequencing.

In addition, we have detected mutations at codon 51 in multiple PCR subclones in two other pancreatic tumors.

Clinical variables, detected mutations, and administered therapies were correlated with overall survival (OS) in a Cox regression model.

Conclusions: Quantitative fundus autofluorescence imaging revealed characteristic qAF levels in association with certain gene mutations and in participants without detected mutations.

Case presentation: Targeted exome sequencing was performed on a Chinese proband, and Sanger sequencing was utilised to validate the detected mutations.