Title : Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

Pub. Date : 2016 Nov/Dec

PMID : 25489661






1 Functional Relationships(s)
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1 Genetic analysis of glycogen branching enzyme 1 gene (GBE1) was performed in parents and showed a novel deletion of 1 nucleotide, c.1937delT, affecting the mother and a mutation affecting a consensus splice site, c.691+2T>C, in the father. Glycogen 1,4-alpha-glucan branching enzyme 1 Homo sapiens