Sentence examples for mutation is already from inspiring English sources

We found a missense mutation 1811G > A (R604H) in exon 11 in a patient with episodic tension headache and childhood epilepsy with absences; in the literature this mutation is already known [34 36].

A new drug targeting this mutation is already on the market, however; the most important factor for successful treatment in these patients, is adequate tissue re-sampling so that novel mutations can be detected.

and checks if the mutation is already present in dbSNP (Build 132) (Sherry et al., 2001).

In fact, the antibody against the IDH1 R132H mutation is already used in many neuropathology laboratories, e.g. as a useful diagnostic marker for the differential diagnosis of diffusely infiltrating gliomas versus reactive astrogliosis [ 25].

It should be noted that under a scenario in which a beneficial mutation is already relatively common at the onset of positive selection (as it is a likely case in the Colorado potato beetle), the pattern of genetic variation may differ markedly from the classical signature of positive selection [ 8], not for example, leading to substantial reduction in genetic diversity (e.g. [ 12]).

Although the BRAF V600E mutation is already described with lower frequency in other human cancers, such as melanomas (50%), papillary thyroid cancers (40 60%), colorectal cancers (8 10%), Langerhans cell histiocytosis (57%) and more rarely in non-small-cell carcinoma of the lung and ovarian cancers, this variant of BRAF mutations is not known in other B-cell disorders.

Women who have such a mutation are already known to have a high risk of developing breast cancer and ovarian cancer.

The standard genotyping was able to detect G190A mutation only one month after start of ARV, when the T215F mutation was already present (Table 1).

In conclusion, the R337H TP53 mutation may be responsible for an increased CPC incidence in Curitiba and probably in other regions of southern Brazil, where the mutation was already documented to be very frequent in ACT (around 85 95% in the states of São Paulo and Paraná) [9], [11], [29].

In both patients a germline point mutation was already identified.

However this was not a compensatory mutation as the same mutation was already fixed at 220 DPI.