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

Pubmed ID: 
27995398
Year: 
2017
Month: 
Mar
Volume: 
40
Issue: 
2
Citation: 
Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Journal of inherited metabolic disease 40 (2) : 261 - 269(2017) PubMed (Grant IDs: 1026891, APP1008433)