Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Cornelius F. Boerkoel(Child and Family Research Institute), Nina Raben(APT Therapeutics (United States)), Frederick W. Miller(National Institutes of Health), Catherine Nicastri, Ralph C. Nichols, R Exelbert, Paul H. Plötz(National Institutes of Health)
PubMed
April 1, 1995
Cited by 133
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