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Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddv331

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Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
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National Institute for Health Research More from this funder
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

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