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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
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

Internet

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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