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Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene
Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism at the interface of fat and carbohydrate metabolism. We report a male patient with GKD and a novel insertion of TT in exon 5 at position 378 of the GK cDNA (378–379insTT). This resulted in a premature stop codon and 0.8% norm...
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| Publicado no: | Mol Genet Metab Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4545508/ https://ncbi.nlm.nih.gov/pubmed/26309814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.06.004 |
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