Molecular diagnosis of Alpers syndrome.

Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK
Journal of hepatology (2006), Volume 45, Page 108
PubMed entry Publisher's site

Abstract:

Alpers syndrome is a developmental mitochondrial DNA depletion ...
Alpers syndrome is a developmental mitochondrial DNA depletion syndrome leading to fatal brain and liver disease in children and young adults. Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder.

Polymerases:

Human Pol gamma F749S,Human Pol gamma R852C,Human Pol gamma T914P,Human Pol gamma L966R,Human Pol gamma L1173fsX

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:20240425

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.