Sentences with phrase «from frameshift mutations»

Not exact matches

We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS.

Signs of ivermectin toxicosis can occur in any breed but are most common in ivermectin - sensitive breeds such as collies and other herding breeds.20, 21 Ivermectin sensitivity is derived from a frameshift deletion mutation of the multidrug resistance gene (MDR1; the most recent nomenclature is ABC ±), resulting in a severely truncated, nonfunctional protein product.