SLC37A4‐CDG: Second patient

Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of glycosylation type II (SLC37A4‐CDG). Only one patient has bee...

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Detalles Bibliográficos
Autores principales: Wilson, Matthew P., Quelhas, Dulce, Leão‐Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932867/
https://www.ncbi.nlm.nih.gov/pubmed/33728255
http://dx.doi.org/10.1002/jmd2.12195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932867/
https://www.ncbi.nlm.nih.gov/pubmed/33728255
http://dx.doi.org/10.1002/jmd2.12195

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