A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
ERAL1 基因发生纯合错义突变,该基因编码线粒体 rRNA 分子伴侣,可导致佩罗综合征
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddx152
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp