The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
J Inherit Metab Dis
Jon K Laerdahl
Paul H Backe
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Department of Microbiology, Oslo University Hospital, Oslo, Norway.
Department of Medical Biochemistry, Institute for Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Medical Genetics, University of Pecs Medical School, Pecs, Hungary.
No abstract available
Research Support, N.I.H., Extramural
Congenital Disorders of Glycosylation* / genetics
Genetic Association Studies
Phosphoglucomutase* / genetics
NS/NINDS NIH HHS/United States
U54 NS115198/NS/NINDS NIH HHS/United States