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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Publicado en:JIMD Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2021
Assuntos:
Research Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7932867/
https://ncbi.nlm.nih.gov/pubmed/33728255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12195
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