nonsense mutation การใช้
- However, the paternal nonsense mutation at arginine 303 truncates the peptide.
- Examples of diseases in which nonsense mutations are known to be among the causes include:
- Nonsense mutations code for a stop codon.
- The mutation is caused by a nonsense mutation in " pde6b " gene.
- A clinical trial of Ataluren for nonsense mutations in CDKL5 and Dravet Syndrome has been announced.
- Benzer also proposed missense and nonsense mutations from his " r " II studies.
- A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy.
- A nonsense mutation in one gene of an operon prevents the translation of subsequent genes in the unit.
- There are at least two other types of recognized point mutations, specifically missense mutation and nonsense mutation.
- In NMD, the mRNA transcript contains a premature termination codon ( PTC ) due to a nonsense mutation.
- A nonsense mutation which prematurely halts gene transcription becomes fixed in the population, leading to the loss of genes.
- The premature insertion of a stop codon, a nonsense mutation, can alter the primary structure of a protein.
- These strains cannot synthesize adenine due to a nonsense mutation in one of the enzymes involved in the biosynthetic pathway.
- Type I patients showed only deletions, insertions, and nonsense mutations were identified, most leading to shortened polypeptides.
- There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations.
- A nonsense mutation S108X in exon 9 was identified in a Hispanic male patient with severe recessive nemaline myopathy phenotype.
- Nonstop mutations differ from nonsense mutations in that they do not create a stop codon but, instead, delete one.
- In August 2014, ataluren received market authorization from the European Commission to treat patients with nonsense mutation Duchenne muscular dystrophy.
- Nonsense mutations are changes in DNA sequence that introduce a premature stop codon, causing any resulting protein to be abnormally shortened.
- Likewise, many of the nonsense mutations likely result in nonfunctional channels and hypoexcitability, though this has yet to be tested.
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