Roberta Salinas-Marín Yoshiko Murakami Carlos Alberto González-Domínguez Mario Ernesto Cruz-Muñoz Héctor Manuel Mora-Montes Eva Morava Taroh Kinoshita Susana Monroy-Santoyo Iván Martínez-Duncker
10.3389/fgene.2022.971473
Front Genet
2022 Oct 17;13:971473.
cd59 antigen cdg (congenital disorder of glycosylation) gpi (glycosylphosphatidylinositol) piga exome
CC BY
https://pubmed.ncbi.nlm.nih.gov/36324500/
Case Reports
PMC9619068
36324500
Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
2022