Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Metab Rep |
|---|---|
| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2015
|
| Θέματα: | |
| Διαθέσιμο Online: | 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 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|