Sentence examples for mutation were screened from inspiring English sources

These samples and 45 tumors from individuals carrying the BRCA2 999del5 mutation were screened for mutations in the CHK2 gene.

Both the exon 19 deletion mutation and the L858R point mutation were screened by direct sequencing, as described previously [ 13].

In total, 21 patients with the clinical diagnosis of MWS and confirmatory evidence of a NLRP3 mutation were screened for inclusion into the study.

The semi-nested PCR products from samples without a truncating APC mutation were screened for mutations using denaturing high-pressure liquid chromatography (dHPLC) on a WAVE 3500 HT system (Transgenomic Inc., UK).

Twenty-seven Italian patients displaying a MEN1-like phenotype (hyperparathyroidism, neuroendocrine tumors, pituitary adenoma), but lacking a MEN1 gene mutation, were screened for mutations in CDKN1B (GenBank entry NM_004064.3) as previously reported (Pellegata et al., 2006).

To evaluate whether CHK2 sequence variants could have modifying effects on the phenotype of BRCA2 mutation carriers, these 74 samples and 45 breast tumors from individuals carrying the BRCA2 999del5 mutation were screened for mutations in the CHK2 gene using SSCP and DNA sequencing.

Briefly, CYP21A2 gene was amplified by PCR in three overlapping fragments, and each mutation was screened by allele-specific PCR or PCR-RFLP in a second round of PCR using one of these previously amplified fragments as templates.

The OFD1 gene mutation was screened as previously described [ 26].

Identified mutation was screened in the remaining family members by direct DNA sequencing.

The identified mutation was screened among the remaining family members by direct DNA sequencing.

The mdx point mutation was screened using a modified version of an amplification-resistant mutation system (ARMS) assay (31).