Title : Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Pub. Date : 2012 Jun

PMID : 22305237






1 Functional Relationships(s)
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1 Sequence analysis of the GBE1 gene revealed compound heterozygosity for a previously described frameshift mutation (c.1239delT) and a novel missense mutation (c.1279G>A) that is predicted to alter a conserved glycine residue. Glycine 1,4-alpha-glucan branching enzyme 1 Homo sapiens