Sentence examples for mutation is characterized from inspiring English sources

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.

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

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).

A-T, an autosomal recessive disorder resulting from ATM gene mutation, is characterized by a high incidence of lymphoid malignancies, neurodegeneration, immunodeficiency, premature aging, elevated radiosensitivity, and genomic instability.

The Xcat mutation is characterized by congenital total lens opacities present at eye opening in both hemizygous males and homozygous females, whereas in heterozygous carrier females, the phenotype varies from barely noticeable to totally opaque lenses, similar to the cataract phenotype of NHS patients.

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].

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.

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

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].