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.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA