Sentence examples for mutations not studied from inspiring English sources

The company is also testing Kalydeco as a monotherapy in patients as young as 2 1/2 years old and in patients with gene mutations not studied in its original pivotal trials.

Moreover, although the findings in our study are intriguing, it is not clear whether the same findings can be generalized to persons with BRCA1/2 mutations not studied in the current cohort, or to other, non-Ashkenazi populations.

Several other mutations were not studied.

Although EGFR copy number and mutations were not studied here or in previous studies, higher (750 mg daily) doses of gefitinib also showed a lack of clinical activity (Mackenzie et al, 2005).

Genetic screening for protein C or S deficiency, antiphospholipid and anticardiolipin antibodies and G20210A prothrombin mutation were negative and JAK2V617F mutation was not studied in these patients [ 25].

It is worth noting that this gene mutation was not studied and reported in pediatric BS until it was recently reported to associate with the disease in a single case report where Borzutzky A, et al. [ 19] described a nine-month-old Caucasian boy who developed fever, migratory rash consistent with cutaneous tuberculoid granulomas and inflammatory arthritis.

The One Biallelic Marker ABC method was tested over a range of distributions of beneficial selective coefficients and beneficial mutation rates, including high mutation rates, which are typically not studied in the analysis of other methods.

Our work is focused on somatic mutations and therefore, we did not study these changes in further detail.

We did not study this mutation further.

After validation of other types of mutations not tested in this study, this strategy could be implemented as a first screening approach, potentially before the need of more invasive and time-consuming investigations such as biopsies.

In particular, Table 1 represents the recent update (January 2012) of all the acknowledged missense and nonsense mutations that are clearly pathogenetic in ARSACS patients of different geographic origins (Supp. Appendix I lists pathogenic missense and nonsense mutations identified later than January 2012 and frameshift mutations not used in this study).