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Hochberg I, Demain LAM, Richer J, et al. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021;108(11):2195-2204doi: 10.1016/j.ajhg.2021.10.002.
Hochberg, I., Demain, L. A. M., Richer, J., Thompson, K., Urquhart, J. E., Rea, A., Pagarkar, W., Rodríguez-Palmero, A., Schlüter, A., Verdura, E., Pujol, A., Quijada-Fraile, P., Amberger, A., Deutschmann, A. J., Demetz, S., Gillespie, M., Belyantseva, I. A., McMillan, H. J., Barzik, M., Beaman, G. M., Motha, R., Ng, K. Y., O'Sullivan, J., Williams, S. G., Bhaskar, S. S., Lawrence, I. R., Jenkinson, E. M., Zambonin, J. L., Blumenfeld, Z., Yalonetsky, S., Oerum, S., Rossmanith, W., Yue, W. W., Zschocke, J., Munro, K. J., Battersby, B. J., Friedman, T. B., Taylor, R. W., O'Keefe, R. T., & Newman, W. G. (2021). Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. American journal of human genetics, 108(11), 2195-2204. https://doi.org/10.1016/j.ajhg.2021.10.002
Hochberg, Irit, et al. "Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations." American journal of human genetics vol. 108,11 (2021): 2195-2204. doi: https://doi.org/10.1016/j.ajhg.2021.10.002
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, 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. Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations. Am J Hum Genet. 2021 Nov 04;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. PMID: 34715011; PMCID: PMC8595931.
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