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Results 1 - 1 of 1 for Glycogen storage "disease," type VI
  1. ... the PYGL gene have been found to cause glycogen storage disease type VI (GSDVI). Most mutations change single protein building blocks ( ... Sharrard MJ. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct;30(5): ...