Sentence examples for mutation were characterized from inspiring English sources

Mice with the T158A RTT mutation were characterized (6), but the much more common T158M RTT allele has not yet been reported.

Retinas of mice heterozygous for a myeloid-specific Notch1 mutation were characterized by long sprouts unable to anastomose and by lack of macrophages at the edge of vascular branch points [ 36].

In another article, PPGL with MAX mutation was characterized as a syndrome with high penetrance; the estimated penetrance reached to 73% by 40 years of age [8].

Autosomal dominant retinitis pigmentosa caused by the frequent rhodopsin P23H mutation is characterized by progressive photoreceptor cell death eventually leading to blindness and for which no therapies are available.

This is unlikely to explain variable expressivity in canine MLS an identical mutation was found in all affected dogs and the mutation was characterized on a relatively homogenous breed background.

One missense mutation was characterized functionally.

An Aurora A gene mutation is characterized by a centrosome separation defect [ 30].

Soon after its identification, the c.3909C>G mutation was characterized by its severity on the pancreas and the variability of the pulmonary status [ 8].

This mutation was characterized in 1974 (Mylyk and Threlkeld 1974) and the original description of this mutant suggested that there could be two closely linked lesions responsible for the lack of female fertility in strains carrying this trait.

In particular, the family carrying the +57(T>C) mutation is characterized by a late onset (between 25 and 40 years) and a slow progression of the hearing impairment.

BRAF V600E mutation is characterized by exchange of T to A at base position c.1799 (c. 1799 T > A), which results in substitution of glutamic acid by valine at residue 600 (p. Val600Glut).