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:

new topics/pols set partial results complete validated

Results:

No results available for this paper.
Log in to add missing results...

Entry validated by:

Log in to validate this paper...

Version:20241218

Using Polbase tables:

Sorting:

Tables may be sorted by clicking on any of the column titles. A second click reverses the sort order. <Ctrl> + click on the column titles to sort by more than one column (e.g. family then name).

Filtering:

It is also possible to filter the table by typing into the search box above the table. This will instantly hide lines from the table that do not contain your search text.