Title : Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

Pub. Date : 2008 Apr

PMID : 17994551






1 Functional Relationships(s)
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1 A common missense mutation in the glycogen branching enzyme (GBE1) gene has been identified in Ashkenazi patients with APBD. Glycogen 1,4-alpha-glucan branching enzyme 1 Homo sapiens