Journal article

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou

Journal of Inherited Metabolic Disease | WILEY | Published : 2017


Awarded by NHMRC

Funding Acknowledgements

This research was supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant (CS and JC), NHMRC project grant 1026891 (JC), NHMRC practitioner fellowship (App1008433). We are grateful to the Crane and Perkins families for their generous financial support. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.