Christiaan P. Sentner and colleagues identify AGL mutations (non-missense mutations were overrepresented and 21 novel mutations were observed) were identified in 76 families fromThe International Study on Glycogen Storage Disease (ISGSDIII) cohort.
Sentner, Christiaan P. et al. Journal of Inherited Metabolic Disease.
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HONEY V REDDI, Ph.D., FACMG
The Jackson Laboratory, Farmington