Title: A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Authors: Chatzispyrou IA, Alders M, Guerrero-Castillo S, Zapata Perez R, Haagmans MA, Mouchiroud L, Koster J, Ofman R, Baas F, Waterham HR, Spelbrink JN, Auwerx J, Mannens MM, Houtkooper RH, Plomp AS
Journal: Hum Mol Genet
Published: 2017-04-25