Clinical, molecular and glycophenotype insights in SLC39A8-CDG

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 vari...

Source: Orphanet Journal of Rare Diseases - July 10, 2021 Category: Internal Medicine Authors: Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandr ì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni and Roberta Battini Tags: Research Source Type: research