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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2015-09-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426915300185 |