Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF
Archives of neurology (2007), Volume 64, Page 553
PubMed entry Publisher's site

Abstract:

To define the molecular basis of the autosomal dominant progressive ...
To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder.

Polymerases:

Human Pol gamma L463F,Human Pol gamma S511N

Topics:

Status:

new topics/pols set partial results complete validated

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Version:20230228

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