Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid α-glucosidase locus of patients of differing phenotype

M. L. Huie, S. Tsujino, S. Sklower Brooks, A. Engel, E. Elias, D. T. Bonthron, C. Bessley, S. Shanske, S. Dimauro, Y. I. Goto, R. Hirschhorn

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