Sentence examples for some mutation carriers from inspiring English sources

The severity of the epilepsy could therefore be correlated with the relative amount of inactivated neurons for each chromosome in the brain and some mutation carriers, like mutated mothers in family 13 and 14 for example, could even be asymptomatic due to totally skewed X inactivation.

In future, these and other drugs might render a better prognosis for at least some mutation carriers compared with noncarriers.

Why this should only occur in some mutation carriers remains to be determined, and it may depend upon the region of SPG7 that is involved.

While it is possible that some mutation carriers were missed for technical reasons in the next generation sequencing or bioinformatics methods used, reducing the stringency of calling did not identify any additional variants, which were confirmed by Sanger sequencing.

Since KCNJ11 is expressed outside the pancreas, some mutation carriers, in addition to insulin-dependent diabetes, present with neurological features such as developmental delay and muscle weakness [ 11, 44].

Similar to DBA, the phenotype of TCS is highly variable and some mutation carriers, parents of patients, are only mildly affected (Dixon and Dixon, 2004; Teber et al., 2004).

Some BAP1 mutation carriers also developed uveal or cutaneous melanomas.

It is therefore confusing that some BRCA1 mutation carriers develop tumors that are ER-positive.

Using an age threshold of less than 50 years would miss some CDH1 mutation carriers.

In addition, the mutation screening methods used were not 100% sensitive [ 51] and some BRCA1 mutation carriers have been included in the analysis.

On current evidence in some 83 BRCA2 mutation carriers prognosis does appear very similar to sporadic breast cancer and may well reflect the very similar tumour characteristics [ 17].