A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini AB, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S
Archives of neurology (2010), Volume 67, Page 239
PubMed entry Publisher's site

Abstract:

To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, ...
To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children.

Polymerases:

Human Pol gamma A467T,Human Pol gamma G517V,Human Pol gamma W748S,Human Pol gamma G848S,Human Pol gamma P1073L

Topics:

Status:

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