Mariska Davids and colleagues analyze the Golgi and glycosylation in cultured skin fibroblasts in three patients with PLA2G6-associated neurodegeneration (PLAN). They showed that mutations in the gene PLA2G6 cause neurodegeneration by a yet undefined mechanism.
Davids, Mariska et al. Journal of Medical Genetics.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto