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Clinical, molecular and glycophenotype insights in SLC39A8-CDG

BACKGROUND: SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and sy...

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Detalles Bibliográficos
Autores principales:	Bonaventura, Eleonora, Barone, Rita, Sturiale, Luisa, Pasquariello, Rosa, Alessandrì, Maria Grazia, Pinto, Anna Maria, Renieri, Alessandra, Panteghini, Celeste, Garavaglia, Barbara, Cioni, Giovanni, Battini, Roberta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272319/ https://www.ncbi.nlm.nih.gov/pubmed/34246313 http://dx.doi.org/10.1186/s13023-021-01941-y

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