A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat.

Victor N RivasAvalene W K TanMeg ShaverdianNghi P NguyenJalena R WoutersJoshua A Stern Ronald H L Li

Published in: Journal of veterinary internal medicine (2024)

This study emphasizes the role of precision medicine in cardiovascular disease of cats and identified yet another variant that may be of utility for screening in the feline population. This study provides a small-volume, standardized, successful protocol for adequate platelet RNA isolation and subsequent molecular assessment of gene expression in cats.

Keyphrases

gene expression
cardiovascular disease
randomized controlled trial
dna methylation
type diabetes
metabolic syndrome
cardiovascular events