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Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. (Lars Feuk)ORCID iD: 0000-0001-8367-8391
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
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(English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004Article in journal (Refereed) Epub ahead of print
Keyword [en]
PIGG, GPI deficiency, Intellectual disability, Exome sequencing
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-326282OAI: oai:DiVA.org:uu-326282DiVA: diva2:1119772
Available from: 2017-07-04 Created: 2017-07-04 Last updated: 2017-07-04
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