Sentence examples for mutation consisting of from inspiring English sources

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.

Previous mtDNA variation studies in populations of the Pacific and western Indonesia have shown that a particular mtDNA mutation consisting of a deletion of nine base pairs (9bp-del), between the cytochrome oxidase II and lysyl-tRNA genes, has reached gene fixation in most Austronesian-speaking populations of the Pacific islands [27]– [30] and Madagascar [31].

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.

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

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

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

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

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).

The 2B mutation consists of a three-nucleotide substitution in the exon splicing enhancer of exon 7 of the endogenous mouse Smn gene (10).