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Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: christodoulou j. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
The molecular basis of malonyl-CoA decarboxylase deficiency.
FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: christodoulou j. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.
571 results