Sentence examples for mutation consisted of from inspiring English sources

The NIa mutation consisted of an Asp to Ala substitution in the catalytic triad.

The COMP gene mutation consisted of 22 cases (15 females, 7 males).

This mutation consisted of the addition of one repeat, increasing the size from 7 to 8 repeats.

These results for the mutant allele revealed a mutation consisted of a 76 bp insertion containing poly Adenine sequences with a stop codon (TAA) (Fig. 2).

In this paper, we found the boy with unconjugated hyperbilirubinemia had a compound heterozygous mutation consisted of three mutations in the UGT1A1 gene (p.G71R, p.F170- and p.Y486D).

Each mutation consisted of the replacement of 15 codons (45 bp) with 8 codons representing a 24 bp sequence containing three unique restriction endonuclease sites (KpnI/ MfeI/ SpeI) starting from the second codon.

The huntingtin gene HTT, whose mutation is responsible for 90% of HD phenotypes contains a trinucleotide (CAG) repeat in its first exon; the mutation consists of an abnormal expansion of the repeat beyond a threshold of 35 units.

A potential limitation of this study is that, because the human mutation consists of the deletion of one of four consecutive lysine residues, the mutant and wildtype cTnT proteins could not be differentially quantified in these transgenic mice.

The cells bear a germline TSC2 mutation, consisting of a single base-pair change resulting in replacement of lysine 698 with a stop codon (K698X), as well as loss of heterozygosity (LOH), and do not express tuberin [15].

A single microsatellite locus, Stn49 showed a mutation consisting of a one base pair insertion.

The 2B mutation consists of a substitution of three nucleotides in the exon splicing enhancer of exon 7 (60).