Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

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 su...

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Detalles Bibliográficos
Autores principales: Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599673/
https://www.ncbi.nlm.nih.gov/pubmed/26293662
http://dx.doi.org/10.1093/hmg/ddv331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599673/
https://www.ncbi.nlm.nih.gov/pubmed/26293662
http://dx.doi.org/10.1093/hmg/ddv331

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