Sentence examples for pathogenic frame from inspiring English sources

He was found to carry a pathogenic frame shift mutation (p.T816RfsX10) in PKP2 gene.

Direct sequence analysis of the FLNA gene in DNA extracted from leukocytes showed a pathogenic frame shift mutation c.3045del5 in exon 21.

Direct sequence analysis of FLNA in DNA extracted from leukocytes showed a pathogenic frame shift mutation c.3582delC in exon 22.

Finally, we examined the effect of pathogenic frame-shift mutations of class VI in the ORF15 domain of RPGRORF15 (Breuer et al., 2002; Sharon et al., 2003) (Fig. 2E).

Alternatively, Lohmann et al. [ 22] reported that transfected GFP-WT Thap1 was exclusively localized to the nucleus in OVCAR-3 (human ovary adenocarcinoma) cells, and that this pattern shifted to include the cytoplasm only when a pathogenic frame-shift mutation was present.

Direct sequence analysis of FLNA in DNA extracted from leukocytes showed a pathogenic mutation frame shift mutation c.6635delTCAG in exon 41.

The virus found in Tennessee likely mutated to become highly pathogenic from a less dangerous, low pathogenic form, he said.

While the OR for ATM in this frequency bin was very near 1.0, our data set did contain one known pathogenic in-frame deletion in the gene, p.RIS2547_2549del (c.7638_7646del9), which was observed in a control.

Patient 266 carried two NPHS1 pathogenic mutations, an in-frame deletion and a frameshift, together with a heterozygous missense mutation in COL4A3, previously reported by Heidet et al. She had a congenital NS presenting with microhematuria and no family history of NS.

Most germline mutations truncate the protein, but two pathogenic missense mutations and one in-frame deletion have been reported.

We considered 31 of the 117 X-chromosomal CNVs that were less than 50 Kb and 21 that did not contain open reading frames unlikely to be pathogenic and eliminated them from further assessment.