Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Title
Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
Authors
Keywords
-
Journal
NEUROMUSCULAR DISORDERS
Volume 23, Issue 2, Pages 165-169
Publisher
Elsevier BV
Online
2012-12-04
DOI
10.1016/j.nmd.2012.11.005

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