- Abstract:
-
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 - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's version
- Files:
-
-
(pdf, 660.0KB)
-
- Publisher copy:
- 10.1093/hmg/ddv331
-
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- Grant:
- APP571287; APP1035828; APP1022707
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Human molecular genetics Journal website
- Volume:
- 24
- Issue:
- 21
- Pages:
- 6146-6159
- Publication date:
- 2015-08-20
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
- URN:
-
uuid:e7dcfd84-15df-48db-99c9-e8db46d00c1f
- Source identifiers:
-
541793
- Local pid:
- pubs:541793
- Language:
- English
- Copyright holder:
- Ilkovski et al.
- Copyright date:
- 2015
- Notes:
-
© 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]
Journal article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
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+ National Health and Medical Research Council of Australia
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National Institute for Health Research
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