Biallelic variants in mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects resulting in pleiotropic multisystem presentations

Autor: Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Pagarkar, W, Seuma, ARP, Verdura, E, Pujol, A, Amberger, A, Deutschmann, AJ, Demetz, S, O'Sullivan, J, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Urquhart, JE, Rea, A, Beaman, GM, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT, Newman, WG
Rok vydání: 2022
Zdroj: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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ISSN: 1018-4813
Databáze: OpenAIRE
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