PIGO deficiency: palmoplantar keratoderma and novel mutations

BACKGROUND: Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycosylation...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Letter to the Editor
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5445308/
https://ncbi.nlm.nih.gov/pubmed/28545593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0654-9
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