Sentence examples for mutation a single from inspiring English sources

The disease only strikes people who inherit a mutation, a single base defect in the human bA-globin gene, from both parents.

Because the BstXI site was inactivated by the R− mutation, a single band was seen with BstXI for all (12/12) of the R− clones (data not shown).

One patient (Case 1) was heterozygous for a previously undescribed mutation, a single nucleotide substitution, c.311C>A, which results in the substitution of threonine by asparagine (p.T104N).

FREM1 is a multi-domain protein and, in mice that are homozygous for the FREM1 bat mutation, a single DNA base change abolishes an intron splicing site.

Usually patients have less serious mutations: a single front tooth or a slightly deformed face.

Interestingly, we found aside to other mutations a single point mutation in Xyr1 and investigated to which extent this is responsible for the outstanding phenotype of that strain.

In order to identify the Ile462Val and Thr461Asn mutations, a single PCR amplicon was digested with BsrDI or BsaI restriction enzymes, respectively [ 26].

The first mutation is a single base mutation, resulting in a glutamic acid to lysine change at position 69.

We introduced the reported V38R mutation, via a single point mutation, in the codon optimized ldh gene (for details see the Methods section).

More than 90% of BRAF mutations involve a single point mutation, T1799A, in codon 600 of exon 15, leading to a V600E amino acid substitution [ 9, 10].

Finally, we identified COL9A2 mutations in five MED patients and a COL9A3 mutation in a single MED patient (Table 3).