mutation

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  • noun

Synonyms for mutation

Synonyms for mutation

the process or result of making or becoming different

the process or result of changing from one appearance, state, or phase to another

Synonyms for mutation

(biology) an organism that has characteristics resulting from chromosomal alteration

a change or alteration in form or qualities

References in periodicals archive ?
In conclusion, a nonsense mutation is identified in a Chinese family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene.
today announced that the Proceedings of the National Academy of Sciences (PNAS) has published new results further validating Translarna's (ataluren) mechanism of action to promote readthrough of premature stop codons resulting from nonsense mutations in genetic disorders.
All frameshift and nonsense mutations described predict truncated proteins that, if stably translated, would lack the homeodomain region, possibly affecting its DNA-binding and transcription-regulation activities.
We are extremely pleased to have reached a successful outcome with NHS England, which will provide long-awaited access to Translarna for patients with nonsense mutation DMD.
Genzyme, in turn, retains an option to commercialise ataluren in indications other than nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) outside USA and Canada.
Case 5 was wild type for the POMC gene and had a novel MC4R heterozygous nonsense mutation that introduces a stop codon (Q43X) and produces a truncated N-terminal peptide.
M2 PHARMA-October 15, 2010-PTC's ataluren slows walking ability loss in patients with nonsense mutation dystrophinopathy(C)2010 M2 COMMUNICATIONS
2m) grant from the US Food and Drug Administration (FDA) Office of Orphan Products Development (OPD) to support an ongoing Phase III study of ataluren in patients with nonsense mutation cystic fibrosis (nmCF).
19 January 2010 - US-based company PTC Therapeutics Inc (PTC) today announced the initiation of an additional clinical trial of ataluren (PTC124) in boys and young men with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) who have permanently lost the ability to walk independently.
The two-year grant will support an ongoing Phase IIa clinical trial of ataluren in hemophilia A and B due to a nonsense mutation.
Although mutations that affect the reading frame, cause a missense or nonsense mutation, or alter a splice site have a high likelihood of being pathogenic, definitive assessment of disease association requires in vitro expression and analysis of the variant gene product in conjunction with additional family studies to determine whether the variant segregates with disease (60).
If a mutation in the mRNA produces a frameshift, nonsense mutation, or a nonconserved missense mutation in a conserved region, the mutation is likely to be deleterious.
This would involve a re-submission of an NDA containing the current data on effectiveness of ataluren with new data to be generated on dystrophin production in nonsense mutation Duchenne muscular dystrophy patients' muscles, as quantified by procedures to be agreed upon between PTC and the FDA and using newer technologies.