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Article

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Molecular genetics and metabolism - 1 Jul 2009

Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont J P, Lebre A S

Abstract excerpt

Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clinical, radiologic, and genetic features of these DGUOK patients. This new DGUOK...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phosphotransferases (Alcohol Group Acceptor)

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Source

Identifiers

PMID: 19394258
DOI: 10.1016/j.ymgme.2009.03.007

Genes

DGUOK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19394258-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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