Sentence examples for mutations are pathogenic from inspiring English sources

Therefore, whilst it is recognised that not all missense mutations are pathogenic [54], the clinical, neuropathological and cellular phenotype common to all 3 CHmutationstions, and which is distinct from controls, supports the proposal that all 3 nucleotide substitutions described in this report are associated with a lower motor neuron dominant-ALS.

Several strands of evidence indicate that the MTND1 mutations are pathogenic, causing the clinical phenotype.

However, the challenge is to identify which of these mutations are pathogenic.

While the sample size is small, overall functional, genetic and phenotypic data suggest that these mutations are pathogenic.

This method works on the assumption that in genes with known pathogenic loss-of-function mutations, all nonsense mutations are pathogenic.

Together, these data support our conclusion that the mutations are pathogenic, with an effect on both the generation and subsequent migration of neurons.

Whether these mutations were pathogenic was not verified.

To confirm that the 15 mutations were pathogenic, we screened 190 healthy French individuals.

Thus, some missense mutations in GMPPB affect expression and localization, consistent with the notion of the mutations being pathogenic.

However, none of the mouse mutations were pathogenic suggesting that mtDNA changes do not contribute to the carcinogenic progression of these chemically induced and spontaneous mouse brain tumors.

Therefore, it is likely that truly null mutations of NBS1 (in homozygous state) do not cause Nijmegen syndrome, but only those mutations that encode partially active Nibrin (such as the 657del5 mutation) are pathogenic for the syndrome.