Sentence examples for mutation the patient from inspiring English sources

Future therapies may require different inhibitor types depending on which LRRK2 mutation the patient has.

Consistent with this null mutation, the patient presented with classic IPEX syndrome and died within the first year of life.

The autosomal dominant familial TTR amyloidoses present as a polyneuropathy [familial amyloid polyneuropathy (FAP)] and/or a cardiomyopathy (familial amyloid cardiomyopathy), depending on the identity of the TTR mutation the patient has inherited of the >100 disease-linked variants.

For example, at the time that 50 of Patient 12's CTCs showed no mutation, the patient was receiving RAD001 (everolimus), an mTOR inhibitor that may be more active against cells carrying PIK3CA mutations [ 41]; her CTC count subsequently dropped to zero, perhaps showing response to therapy over time.

In the imatinib arm, three patients (one patient each with the M244V, G250E, and D276G/T277A/T315I mutations) had achieved CCyR before detection of their mutations at treatment discontinuation; one of these patients also achieved an MMR (G250E mutation); the patient with the M244V mutation subsequently lost CCyR while on treatment.

In an effort to comprehensively search for potential mutations, the patient's genomic DNA was sent to Illumina whole genome sequencing.

As the driver score of a mutation (gene) µ i is directly prorportional to the number of patients possessing that mutation and the patient score π i is directly proportional to the total number of mutations possesed by the patient, the mutation score and patient score are mutually defined relative to each other and the equations below are justified.

Data showed that base editor could precisely correct HBB −28 (A>G) mutation in the patient's primary cells.

This may be dependent on the type of ELANE mutation in the patient.

Inherited NF2 mutation predisposes the patient to schwannomas, meningiomas, and ependymomas.

A prioritization scheme was applied to identify the pathogenic mutation in the patient, similar to recent studies [ 6, 15].