A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
Nina Raben(APT Therapeutics (United States)), Paul H. Plötz(National Institutes of Health), Jeffrey B. Sherman(National Institutes of Health), Frederick W. Miller(National Institutes of Health), H. Mena(National Institutes of Health)
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