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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Pubblicato in:JIMD Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2021
Soggetti:
Research Reports
Accesso online: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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