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Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation.
Ng, Bobby G., Lourenço, Charles Marques, Losfeld, Marie‐Estelle, Buckingham, Kati J., Kircher, Martin, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.Language:
english
Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12091
Date:
April, 2019
File:
PDF, 1007 KB
english, 2019