Sentence examples for multiple pathogenic mutations from inspiring English sources

We did not detect multiple pathogenic mutations in single patients.

After the identification of the DFNA2 locus on chromosome 1p34, multiple pathogenic mutations in two genes (GJB3 and KCNQ4) have been reported.

Allelic heterogeneity across different ethnic groups in single-marker analyses is expected in complex diseases because of the occurrence of pathogenic mutations across multiple domains of disease genes (allelic heterogeneity) or because of the absence of these variants in some data sets or ethnic groups (locus heterogeneity).

Indeed, translation deficiencies represent a growing cause of multiple OXPHOS deficiencies with several published pathogenic mutations in genes related to the intra-organellar protein synthesis.

In this investigation we implemented multiple computational methods to identify the most likely pathogenic mutations in TYRP1 gene.

MJFF is currently generating and evaluating transgenic models in multiple species and also exploring the viral vector approach of introducing pathogenic mutations in vivo to induce neurodegeneration in PD-relevant brain pathways.

No pathogenic mutations were detected among the five healthy controls in this study, even though multiple SNPs were detected.

70, 71 Two of the multiple subunits (GABRG2 and GABRA1) have been implicated in familial epilepsy 72– 74 with ascertainment of additional pathogenic mutations reinforcing the involvement of defects in these two genes.

These considerations for the comprehensive assessment of pathogenic mutations in breast and ovarian cancers are exemplified for BRCA1 C1501X mutation found in multiple family members during conducting this study (Table  5 and Additional file 2).

Pathogenic mutations in BRCA1 and BRCA2 account for the majority of but not all multiple-case breast cancer families that include members with ovarian cancer or male breast cancer.

Multiple points of attrition are likely to be present in such a delicate part of the functional mechanism and pathogenic mutations in the ND proteins may stress these points, then affecting the whole bioenergetic capacity of the complex.