nonsense mutation


Also found in: Dictionary, Thesaurus, Medical, Legal, Wikipedia.

nonsense mutation

[′nän‚səns myü‚tā·shən]
(cell and molecular biology)
A mutation that changes a codon that codes for one amino acid into a codon that does not specify any amino acid (a nonsense codon).
References in periodicals archive ?
A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein.
A nonsense mutation (428G [right arrow] A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection.
Ataluren is also currently being investigated for use in patients with nonsense mutation cystic fibrosis in a Phase 3 study and nonsense mutation hemophilia A and B in a Phase 2a study.
Given its mechanism of action, Translarna has the potential to address numerous genetic disorders caused by a nonsense mutation.
It is estimated that a nonsense mutation is the cause of DMD in approximately 13% of patients, or approximately 2,000 patients in the United States and 2,500 patients in the European Union.
Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
These include 4 nonsense mutations (6, 7), 2 splice-site mutations (8, 9), 1 frame-shift insertion (4), and 1 frame-shift deletion (10).
Translarna is the first treatment for the underlying cause of nonsense mutation DMD to receive a positive opinion from the CHMP.
NASDAQ: PTCT) today announced results from the Phase 3, double-blind, placebo-controlled, 48-week ACT DMD trial of Translarna(TM) (ataluren), an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD).
Among these, we detected 1 with the relatively common nonsense mutation 808C>T.
First potential disease-modifying treatment for people with nonsense mutation cystic fibrosis, the most severe form of the disease -
PTC124 is potentially applicable to a broad range of other genetic disorders in which a nonsense mutation is the cause of the disease.