Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545508/ https://www.ncbi.nlm.nih.gov/pubmed/26309814 http://dx.doi.org/10.1016/j.ymgmr.2015.06.004 |