Sentence examples for linking mutation from inspiring English sources

These findings uncover potential mechanisms linking mutation D222G to severity of disease.

Previous studies linking mutation rate with observed site heteroplasmies include two studies (Brandstätter et al. 2004; Santos et al. 2005) of human populations of up to three generations, where the mutation rate was estimated from assuming that each observed site heteroplasmy represented a transitional substitution.

However, the use of YDHS facilitates linking mutations and genes in a haplogroup thus making it possible to compare subhaplogroups inside complex diseases like infertility.

The biomedical importance of this protein has come from findings linking mutations in Ang to cancer progression and neurodegenerative diseases.

These data provide further observations linking mutations upstream fabI with up-regulated expression of the fabI gene.

Importantly, our study contributes to the unraveling of common pathomechanisms linking mutations in HSPB1 and NFL to CMT diseases.

In humans, there is no current evidence linking mutations in GPI biosynthesis genes with HPE or forebrain truncations.

Despite such limitations, these approaches are very useful and they currently represent the only means of linking mutations with protein function (Table 2).

Hence, the mutated Nnt allele, or a closely linked mutation, in C57BL/6J mice acts as a modifier of the mutant phenotype of loss of Bcl2l2.

Our present study shed light on the resistance mechanism of the strongly linked mutation L10F/N88S observed experimentally in AE subtype.

This phenotype-driven approach requires high-throughput behavioral screening to link mutation with function.