2024 article
A novel <i>ITGA2B</i> double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat
Rivas, V. N., Tan, A. W. K., Shaverdian, M., Nguyen, N. P., Wouters, J. R., Stern, J. A., & Li, R. H. L. (2024, March 1). JOURNAL OF VETERINARY INTERNAL MEDICINE.
author keywords: congenital; feline; glycoprotein IIb/IIIa; macrothrombocytopenia; precision medicine; thrombopathia
TL;DR:
This study provides a small-volume, standardized, successful protocol for adequate platelet RNA isolation and subsequent molecular assessment of gene expression in cats and identified yet another variant that may be of utility for screening in the feline population.
(via Semantic Scholar)
onlinelibrary.wiley.com (publisher PDF)
Source: Web Of Science
Added: March 25, 2024
Abstract