Glycogenosis type VII (Tarui disease) in a Swedish family: Two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

R. C. Nichols, O. Rudolphi, B. Ek, R. Exelbert, P. H. Plotz, N. Raben

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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Medicine & Life Sciences