Article
Mutational and functional analysis of Glucose transporter I deficiency syndrome.
Molecular genetics and metabolism - 1 Nov 2015
Nakamura Sachie, Osaka Hitoshi, Muramatsu Shinichi, Aoki Shiho, Jimbo Eriko F, Yamagata Takanori
Abstract excerpt
OBJECTIVE: We investigated a correlation between a mutation in the SLC2A1 gene and functional disorders in Glucose transporter I deficiency syndrome (GLUT1DS). METHODS: We performed direct sequence analysis of SLC2A1 in a severe GLUT1DS patient and identified a novel frame shift mutation, c.906_907insG, p.V303fs. We created a plasmid vector carrying the c.906_907insG mutation, as well as A405D or R333W in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.