Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia
Minal J Menezes, Yiran Guo, Jianguo Zhang, Lisa G Riley, Sandra T Cooper, David R Thorburn, Jiankang Li, Daoyuan Dong, Zhijun Li, Joseph Glessner, Ryan L Davis, Carolyn M Sue, Stephen I Alexander, Susan Arbuckle, Paul Kirwan, Brendan J Keating, Xun Xu, Hakon Hakonarson, John Christodoulou
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2015
Awarded by Australian NHMRC
Awarded by Shenzhen Municipal Government of China
This research was supported by Australian NHMRC grant 1026891 to J.C., an NHMRC Research Fellowship to S.T.C., an NHMRC Principal Research Fellowship to D.R.T., an NHMRC early career fellowship for R.L.D., an NHMRC practitioner fellowship for C.M.S., an Australian Mitochondrial Disease Foundation (AMDF) PhD Scholarship to M.J.M. and a Research Grant from the Shenzhen Municipal Government of China (no. CXZZ20130517144604091) to X.X.