Sentence examples for mutations generating premature from inspiring English sources

Other mutations generating premature stop codons near codon 771 have been reported to cause McArdle's disease: p.E779delE, found in a Korean patient [29], and p.C784X [22] and p.E797VfsX18 [30], both described in Spanish patients.

**: Truncations include mutations generating premature stop codons and mutations in splice sites.

The use of specific antisense oligonucleotides to induce exon skipping and generate in-frame transcripts translated into functional, albeit smaller, protein could be an additional approach for the therapy of diseases caused by mutations generating premature stop codons.

Truncations include nonsense mutations generating premature stop codons and mutations in intron splice sites, the observed frequencies of both classes (2.5% and 1.8% respectively) also fitting expected frequencies (4.0% and 1.1%)(χ = 2.8; df = 1; p = 0.09).

Truncated BRCA2 protein is created as a result of c.289G>T, c.2950G>T, c.7963C>T, and c.8878C>T mutations generating premature stop codon, and except of the last one, all of them were primarily detected in Italy.

These include 2 frameshift mutations at residues 45 and 200 within LIM domains 1 and 3, respectively, 2 nonsense mutations generating premature termination codons at residues 153 and 198 within LIM domains 2 and 3, respectively, and 2 missense mutations, C209R and C276S, both located within LIM domain 3 [ 177, 191, 192].

However, in mexZ, almost 15% of mutations generated premature stop codons (Table 2).

Two of the mutations generate premature stop codons upstream of all conserved domains, while the third causes a cysteine-to-tyrosine change in a conserved residue in one of the LRRs that likely interferes with the normal function of the protein, indicating that all three alleles reduce or eliminate Fbxl7 function.

Many mutations in PAX6 generating premature termination codons have been previously reported [ 10] and are deposited in the Human PAX6 Allelic Variant Database [ 9].

In particular, nonsense mutations that generate premature termination codons (PTCs) are responsible for approximately one-third of human genetic diseases.

Genetic diseases caused by nonsense or frameshift mutations can generate premature termination codons, which usually trigger nonsense-mediated mRNA decay (NMD).