The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?

Affiliations

• ¹ Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
• ² Department of Microbiology, Oslo University Hospital, Oslo, Norway.
• ³ Department of Medical Biochemistry, Institute for Clinical Medicine, University of Oslo, Oslo, Norway.
• ⁴ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
• ⁵ Department of Medical Genetics, University of Pecs Medical School, Pecs, Hungary.