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...

詳細記述

保存先:
書誌詳細
出版年:JIMD Rep
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2021
主題:
Research Reports
オンライン･アクセス: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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