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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mutation analysis in glycogen storage disease type 1 non-a.

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 of G6PT mutation analysis for all GSD1 non-a patients.[1]

References

  1. Mutation analysis in glycogen storage disease type 1 non-a. Janecke, A.R., Lindner, M., Erdel, M., Mayatepek, E., Möslinger, D., Podskarbi, T., Fresser, F., Stöckler-Ipsiroglu, S., Hoffmann, G.F., Utermann, G. Hum. Genet. (2000) [Pubmed]
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