Glycosylphosphatidylinositol (GPI)-anchored proteins are ubiquitously expressed in the human body and are important for various functions at the cell surface. Mutations in many GPI biosynthesis genes have been described to date in patients with multi-system disease and together these constitute a subtype of congenital disorders of glycosylation. We used whole exome sequencing in two families to investigate the genetic basis of disease and used RNA and cellular studies to investigate the funct...Expand abstract
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- APP571287; APP1035828; APP1022707
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- Human molecular genetics Journal website
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- Ilkovski et al.
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© The Author 2015. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License. This is the publisher's version of the article. The final version is available online from Oxford University Press at: [10.1093/hmg/ddv331]