Human Pol gamma P587L

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma P587L.

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Mutant of: Human Pol gamma (P587L)

NIEHS Pol Gamma Mutation Database: P587L

Human Pol gamma P587L is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma P587L:

 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 Prinyarat Burusnukul, Emily C de los Reyes Phenotypic variations in 3 children w...
2009 Joanna D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, Gavin Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, Robert McFarland, Douglass M Turnbull, Patrick F Chinnery, Robert W Taylor Novel POLG1 mutations associated with...
2009 Jan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, Andrew A M Morris, Maria Bitner-Glindzicz, Nicole I Wolf, James V Leonard, Peter T Clayton, Anthony H V Schapira Analysis of mutant DNA polymerase gam...
2009 A Spinazzola, Federica Invernizzi, Franco Carrara, Eleonora Lamantea, Alice Donati, M Dirocco, I Giordano, M Meznaric-Petrusa, Enrico Baruffini, Iliana Ferrero, Massimo Zeviani Clinical and molecular features of mi...
2009 H Aitken, G Gorman, Robert McFarland, M Roberts, Robert W Taylor, Douglass M Turnbull Clinical reasoning: Blurred vision an...
2009 Charalampos Tzoulis, M Papingji, T Fiskestrand, L S Røste, Laurence A Bindoff Mitochondrial DNA depletion in progre...
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...
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...
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...
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...
2008 Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Cavatina K Truong, Margherita Milone, Bruce H Cohen, Beverly Wical, Jaya Ganesh, Alice A Basinger, Barbara K Burton, Kathryn Swoboda, Donald L Gilbert, Adeline Vanderver, Russell P Saneto, Bruno Maranda, Georgianne Arnold, Jose E Abdenur, Paula J Waters, William C Copeland Molecular and clinical genetics of mi...
2008 Neil Ashley, Anthony O'Rourke, Conrad Smith, Susan Adams, Vasantha Gowda, Massimo Zeviani, Garry K Brown, Carl Fratter, Joanna Poulton Depletion of mitochondrial DNA in fib...
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...
2005 Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani Infantile hepatocerebral syndromes as...
2005 Gittan Kollberg, Monica Jansson, Asa Pérez-Bercoff, Atle Melberg, Christopher Lindberg, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors Low frequency of mtDNA point mutation...
2004 Eleonora Lamantea, Massimo Zeviani Sequence analysis of familial PEO sho...
2003 Gert Van Goethem, Marianne Schwartz, Ann Löfgren, Bart Dermaut, Christine Van Broeckhoven, John Vissing Novel POLG mutations in progressive e...
2003 Massimiliano Filosto, Michelangelo Mancuso, Yutaka Nishigaki, Jacklyn Pancrudo, Yadollah Harati, Clifton Gooch, Ami Mankodi, Lydia Bayne, Eduardo Bonilla, Sara Shanske, Michio Hirano, Salvatore DiMauro Clinical and genetic heterogeneity in...
2003 Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin, Giacomo P Comi POLG mutations in sporadic mitochondr...

Version:20241007

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