The unfolding clinical spectrum of POLG mutations.

Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ
Journal of medical genetics (2009), Volume 46, Page 776
PubMed entry Publisher's site

Incomplete polymerases:

Abstract:

Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of ...
Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.

Polymerases:

Human Pol gamma G426S,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma A467T,Human Pol gamma N468D,Human Pol gamma G517V,Human Pol gamma P587L,Human Pol gamma P587L,Human Pol gamma P587L,Human Pol gamma P587L,Human Pol gamma W748S,Human Pol gamma W748S,Human Pol gamma A957P,Human Pol gamma A804T,Human Pol gamma G848S,Human Pol gamma R869Q,Human Pol gamma T914P,Human Pol gamma R943C,Human Pol gamma Q45R,Human Pol gamma D136E,Human Pol gamma R227P,Human Pol gamma T251I,Human Pol gamma T251I,Human Pol gamma T251I,Human Pol gamma T251I,Human Pol gamma G268A,Human Pol gamma R275X,Human Pol gamma S305R,Human Pol gamma S1095R,Human Pol gamma E1143G,Human Pol gamma E1143G,Human Pol gamma D1184N

Topics:

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