Mutation

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MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
Based on the results from our previous Phase 3 study, we believe that Translarna has the potential to meaningfully improve lung function and decrease pulmonary exacerbations in nonsense mutation cystic fibrosis patients by targeting the underlying cause of the disease.
11) Unlike mutations in other tumor suppressor genes, which are most often characterized by nonsense mutations that result in a truncated or null protein, most TP53 mutations are missense mutations that result in amino acid substitutions.
A homozygous nonsense mutation (428G [right arrow] A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections.
Vasconcelos O, Sivakumar K, Dalakas MC, et al: Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
A nonsense mutation was found in T15 that caused the patient (cm2460) to have TSC2/autism characteristics.
and Genzyme Corporation (Nasdaq: GENZ) today announced preliminary results from the Phase 2b clinical trial of ataluren, an investigational new drug, in patients with nonsense mutation Duchenne/Becker Muscular Dystrophy (nmDBMD).
Translarna received marketing authorization from the European Medicines Agency (EMA) in August 2014 for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged 5 and over, representing the first-ever treatment approved for the underlying cause of the disease.
NASDAQ: PTCT) today announced that the European Commission has granted conditional marketing authorization for Translarna(TM) (ataluren), in the European Union (EU) for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older.
The N209X nonsense mutation causes premature termination of translation, and results in a truncated 140-amino acid peptide instead of the normal protein.
Mutational analysis of the patient's tumor showed 2 RB1 mutant alleles: a nonsense mutation c.