Sentence examples for mutation screening results from inspiring English sources

AIP mutation screening results are summarised in Table 1.

CHEK2*1100delC carriers were all confirmed by direct sequencing on genomic DNA (For mutation screening results, see Additional file 1).

Mutation screening results indicated that these four patients carried the CHEK2*1100delC mutation (see Additional file 1).

Samples that still did not provide satisfactory mutation screening results for at least 80% of the concatenated MRN coding sequence were excluded from further analysis.

This report presents the mutation screening results of four candidate genes for which such de novo mutations were previously reported (LRP1, KPNA1, ALS2CL and ZNF480).

MPV17 mutation screening resulted in the identification of a 1-bp change in the beginning of exon 4 in the affected Chihuahua compared to the reference Boxer sequence (CamFam2.0).

The second series of samples (the 'familial series') consists of tumours of patients suspected to have a hereditary form of breast cancer who were referred for further molecular diagnostic testing, usually after a negative BRCA1 mutation screening result or if germline DNA for mutation screening was not available, but BRCAness was suspected.

To investigate the accumulative effect on TGase production by iterative ARTP mutagenesis, the mutation and screening results for each round were collected and compared.

Lowering the age threshold further to less than 45 years for mutation screening would result in 28% of eligible patients having a CDH1 mutation in this study, Table 3.

In a previous work, we showed that the HRM technique showed high sensitivity and specificity (1.0, and 0.8, respectively, for amplicons of <400 bp) for mutation screening by comparing the results with those obtained with Sanger sequencing [ 26].

Samples that still did not provide satisfactory mutation-screening results for at least 80% of the CHEK2 coding sequence were excluded from further analyses (n = 24).