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Davids, Mariska et al. Journal of Medical Genetics.

Davids, Mariska et al. Journal of Medical Genetics. 2015 Dec

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.



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"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