Human Pol gamma N468D

From H. sapiens
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This page presents all the information in Polbase for Human Pol gamma N468D.


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Mutant of: Human Pol gamma (N468D)

NIEHS Pol Gamma Mutation Database: N468D

Human Pol gamma N468D is a family A enzyme from H. sapiens.

Selected Properties for Human Pol gamma N468D:

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
Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen Parkinsonism, premature menopause, an...
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 Claudia Schulte, Matthis Synofzik, Thomas Gasser, Ludger Schöls Ataxia with ophthalmoplegia or sensor...
2004 Sjoerd Wanrooij, Petri Luoma, Gert Van Goethem, Christine Van Broeckhoven, Anu Suomalainen, Johannes N Spelbrink Twinkle and POLG defects enhance age-...

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