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...

Descripción completa

Detalles Bibliográficos
Autores principales: Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445308/
https://www.ncbi.nlm.nih.gov/pubmed/28545593
http://dx.doi.org/10.1186/s13023-017-0654-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445308/
https://www.ncbi.nlm.nih.gov/pubmed/28545593
http://dx.doi.org/10.1186/s13023-017-0654-9

Ejemplares similares