Human Pol gamma D1184N

From H. sapiens
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Mutant of: Human Pol gamma (D1184N)

NIEHS Pol Gamma Mutation Database: D1184N

Human Pol gamma D1184N is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma D1184N:

3'-5' exo activity 5'-3' exo activity Frameshift Rate Substitution Rate General Error Rate
no data no data no data no data no data
Year Authors Title Results by property
2009 M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets The unfolding clinical spectrum of PO...
2007 Maaike C de Vries, Richard J Rodenburg, Eva Morava, Edwin P M van Kaauwen, Henk ter Laak, Reinier A Mullaart, Irina N Snoeck, Peter M van Hasselt, Peter Harding, Lambert P W van den Heuvel, Jan A M Smeitink Multiple oxidative phosphorylation de...
2006 Emiliano González-Vioque, Alberto Blázquez, Daniel Fernández-Moreira, Belén Bornstein, Juan Bautista, Javier Arpa, Carmen Navarro, Yolanda Campos, Miguel A Fernández-Moreno, Rafael Garesse, Joaquin Arenas, Miguel A Martín Association of novel POLG mutations a...