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Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon
A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we show the first PIGA-CDG case reported in Mexi...
Autores principales: | Salinas-Marín, Roberta, Murakami, Yoshiko, González-Domínguez, Carlos Alberto, Cruz-Muñoz, Mario Ernesto, Mora-Montes, Héctor Manuel, Morava, Eva, Kinoshita, Taroh, Monroy-Santoyo, Susana, Martínez-Duncker, Iván |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619068/ https://www.ncbi.nlm.nih.gov/pubmed/36324500 http://dx.doi.org/10.3389/fgene.2022.971473 |
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