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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Detalles Bibliográficos
Autores principales: Zhang, Yao H., Van Hove, Johan L., McCabe, Edward R.B., Dipple, Katrina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Research Paper
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

Internet

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

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