Article
Mutation analysis in glycogen storage disease type 1 non-a.
Human genetics - 1 Sept 2000
Janecke A R, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, Fresser F, Stöckler-Ipsiroglu S, Hoffmann G F, Utermann G
Abstract excerpt
We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a). Analysis of G6PT encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.