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SLC35A2-CDG: Novel variant and review

SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a pr...

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Principais autores: Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2021-03-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
CDG
Congenital disorder(s) of glycosylation
IGF1
Phenotype
SLC35A2
Variant
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426921000112
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