Gene Symbol: DGUOK
OMIM: 601465Chromosome location: 2p13.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | NA | NA | 1 patients /1 family | NA | Brahimi N et al., 2009Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, . The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.. Mol. Genet. Metab.. 2009; 97(3):221-6 |
| Tunisia | NA | NA | 1 patients /1 family | NA | Brahimi N et al., 2009Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, . The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.. Mol. Genet. Metab.. 2009; 97(3):221-6 |
References
Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.Mol. Genet. Metab.. 2009; 97(3):221-6