Sentence examples for mutation causing a from inspiring English sources

We studied fasting lipoprotein metabolism in an FHBL subject heterozygous for a mutation causing a truncated apoB, apoB-80.

High-level resistance emerges after successive chromosomal mutations in the DNA gyrase- and topoisomerase IV-encoding genes (gyrA and parC, respectively), each mutation causing a rise in the MICs [84].

For the daughter of a 17th century farmer, a mutation causing a weakened immune system or a malfunctioning heart might have been an early death sentence or at least prevented her from having her own children.

A study performed in zebrafish showed that individuals carrying a rb1 gene with a mutation, causing a premature stop codon in exon 20, have a delay in cell cycle exit of the early born retinal ganglion cells leading to optic nerve hypoplasia [105], demonstrating the importance of the gene in proper retinal development.

Employing a biologically relevant experimental model consisting of cells expressing R75C, R519C, R789C, and G853E procollagen II mutants, we found that the R789C mutation causing a decrease in the thermostability of collagen not only alters individual collagen molecules and collagen fibrils, but also has a negative impact on fibronectin.

To date, this is the only reported example of a miRNA mutation causing a Mendelian disease.

A mutation causing an evolutionarily unlikely substitution in SUGT1 was perfectly associated with a haplotype compromising insemination success.

The Y26A mutation caused a moderate loss of activity.

This mutation causes a small, nonfunctional form of the protein chorein to be produced.

The mutation causes a frame shift and results in a premature stop codon.

CLN6 mutation causes a non-classical, hence 'variant', late-infantile NCL (vLINCL) [28], [29].