A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients

Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat

Bernd Brinkmann, Michael Klintschar, Franz Neuhuber et al. · The American Journal of Human Genetics · 1998 · 776 citations · Full text

Genetic Analysis, Allelic Variant, Tandem Repeat +8

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Yu Zhang, Xiaomin Yu, Mie Ichikawa et al. · Journal of Allergy and Clinical Immunology · 2014 · 238 citations · Full text

Immunogenetics, Immune Deficiency, Autoimmune Disease +14

Inborn Metabolic Diseases: Diagnosis and Treatment

J Zeman · Acta Paediatrica · 2012 · 212 citations

Metabolic Syndrome, Metabolic Disorder, Metabolic Disease +7

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

Atfa Sassi, Sandra Lazaroski, Gang Wu et al. · Journal of Allergy and Clinical Immunology · 2014 · 188 citations · Full text

Serum Ige Levels, Immunogenetics, Allergy +10

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte et al. · The American Journal of Human Genetics · 2014 · 176 citations · Full text

Mendelian Disorder, Autoimmune Disease, Pgm3 Mutations Cause +13