Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre

PloS one

Bárbara J Henriques, Tânia G Lucas, João V Rodrigues, …, Valeria Tiranti, Peter Bross, Cláudio M Gomes

• DOI: 10.1371/journal.pone.0107157
• PMID: 25198162
• PMCID: PMC4157841