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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JIMD Rep
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley & Sons, Inc. 2021
Gaiak:
Research Reports
Sarrera elektronikoa: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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