This same drug was approved by the UK's National Institute for Health and Care Excellence ( NICE ) for use in treating nonsense mutations in Duchenne muscular dystrophy.
42.
An experimental drug known as PTC124 may be useful in treating some cases of each of the above diseases ( that is, the cases caused by a nonsense mutation ).
43.
In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3, a homozygous nonsense mutation in the KCTD7 gene ( R99X ) has been identified.
44.
Suppose that a nonsense mutation was introduced at the fourth triplet in the DNA sequence ( CGA ) causing the cytosine to be replaced with thymine, yielding TGA in the DNA sequence.
45.
It is believed that suppression of nonsense mutations in [ PSI + ] cells is due to a reduced amount of functional Sup35 because much of the protein is in the amyloid state.
46.
Notably, humans possess a greater number of early stop codons in TLR4 than great apes; in a study of 158 humans worldwide, 0.6 % had a nonsense mutation.
47.
Approximately 20 % of Caucasians are non-secretors due to the G428A and C571T nonsense mutations in FUT2 and therefore have strong although not absolute protection from the norovirus GII . 4.
48.
This has been demonstrated in ?-globulin . ?-globulin mRNAs containing a nonsense mutation early in the first exon of the gene are more stable than NMD sensitive mRNA molecules.
49.
Other mutations in GRIP1 that lead to Fraser syndrome include nonsense mutations, frameshift mutations, splice site mutations, a genome deletion and a deletion of exon 18 of the GRIP1 gene.
50.
Emily's mutation belongs to a larger category called nonsense mutations, which affect approximately 10 % of CF cases worldwide and account for up to 30 % genetic diseases more broadly.
