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Article

Molecular diagnosis of Alpers syndrome.

Journal of hepatology - 1 Jul 2006

Nguyen Khue V, Sharief Farida S, Chan Sherine S L, Copeland William C, Naviaux Robert K

Abstract excerpt

BACKGROUND/AIMS: 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. METHODS: The POLG locus was sequenced in 15 sequential probands diagnosed with Alpers syndrome. In addition, the POLG mutations found to...

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Source

Identifiers

PMID: 16545482
DOI: 10.1016/j.jhep.2005.12.026

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular diagnosis of Alpers syndrome.PMID 16545482Read ↗

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