Sentence examples for disease causing mutation from inspiring English sources

To identify the disease causing mutation in this family, we performed mutational analysis based on candidate gene sequencing.

Please note that Cys163Ser is the disease causing mutation, whereas Arg161Gln is a functionally neutral polymorphism.

To describe the clinical features and identify the disease causing mutation in a family with X-linked retinoschisis.

In two boys with signs of OI we identified the disease causing mutation of OI VI [1].

We found that a disease causing mutation in PC1, R4227X, does not inhibit SOC currents when expressed in Xenopus oocytes.

No disease causing mutation was found in the BRCA2 gene.

Further work is necessary to determine whether these two haplotypes capture ancestrally distinct causative mutations or are in linkage disequilibrium with a single disease-causing mutation.

When performed early enough, at the same time as fertilisation, 42 out of 58 embryos, or 72%, were found to be free of the disease-causing mutation.

Although IVF coupled to PGT can ensure that couples carrying a severe disease-causing mutation will not have an affected child, it doesn't always yield a baby.

But couples who know they are at risk of transmitting a severe disease-causing mutation already have safe ways to avoid doing so.

Finally, we provide a possible structural explanation for the reduced aggregation rate of Aβ fibrils containing the Flemish disease-causing mutation.