Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
Ralph C. Nichols, Nina Raben(APT Therapeutics (United States)), Olle Rudolphi, Paul H. Plötz(National Institutes of Health), R Exelbert, B. Ek
PubMed
July 1, 1996
Cited by 22
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