Aberrant splicing in adult onset glycogen storage disease type II (GSDII): Molecular identification of an IVS1 (- 13T→G) mutation in a majority of patients and a novel IVS10 (+ 1GT → CT) mutation

M. L. Hule, A. S. Chen, S. Tsujino, S. Shanske, S. Dimauro, A. G. Engel, R. Hirschhorn

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