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Paper Details

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Hum Mutat
17
2017
GPI, GPI anchor synthesis genes, GPI deficiency, GPI-APs, GPI-anchor deficiencies, ID, ID syndrome, NM_001127178.1:c.1640G, PIGG, PIGG loss of function, Phosphatidylinositol, Phosphatidylinositol Glycan Anchor Biosynthesis, Class G, cerebellar ataxia, cerebellar hypoplasia, congenital disorders of glycosylation, facial dysmorphism, facial dysmorphology, fibroblasts, granulocytes, intellectual disability, patient, patients, seizures
Author NameAffiliation
Patrik Georgii-HemmingUppsala University
Patrik Georgii-HemmingKarolinska Institute, Karolinska University Hospital Solna
Peter M KrawitzInstitute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin
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