Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report

BACKGROUND: Glycosylphosphatidylinositols (GPI) are glycolipids that act as membrane anchors of many cell surface proteins. The phosphatidylinositol glycan class S (PIGS) gene encodes an essential component of the multi-subunit, membrane-bound, GPI transamidase that comprises 4 other proteins includ...

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Detalles Bibliográficos
Autores principales: Li, Wenhui, Zhou, Shuizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080484/
https://www.ncbi.nlm.nih.gov/pubmed/37035392
http://dx.doi.org/10.21037/tp-22-317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080484/
https://www.ncbi.nlm.nih.gov/pubmed/37035392
http://dx.doi.org/10.21037/tp-22-317

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