nonsense mutation


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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 ?
Ataluren is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation, that is, an alteration in the genetic code that prematurely halts the synthesis of an essential protein.
Frameshift and nonsense mutations may occur within the entire open reading frame of the gene.
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
A novel nonsense mutation in the LPL gene in a Chinese Neonate with Hypertriglyceridemia.
By sequencing of exon 8 of the patients DNA the nonsense mutation Arg333stop in nucleotide 31118C->T was found (Fig.
7) Mutations so far described in Tarui's disease are the common point mutation of the exon/intron 5 junction, (8,9) a cryptic splice site mutation within exon 15, (10) a 75-bp inframe deletion at the splice donor site of intron 5, (10) a nonsense mutation associated with retention of intron 10, (11) a single base deletion in exon 22, resulting in a frameshift mutation and premature stop codon, (10) a deletion of the 2003 C nucleotide, (12) a G1127A frameshift resulting in a 155nt retention of intron 13, (5) and an A-G change in intron 16.
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).
Craig Venter Institute, California, USA) softwares, and a novel nonsense mutation (C.
Food and Drug Administration has issued a complete response letter, or CRL, for the New Drug Application of the investigational medicine ataluren for the treatment of nonsense mutation dystrophinopathies.
s (NASDAQ: PTCT) New Drug Application for Translarna (ataluren), an oral, first-in-class, protein restoration therapy for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD), the company said.
Of these confirmed mutant alleles, 17 were missense mutations, one was a nonsense mutation, and one was a splice site mutation (Kim et al.