Associated Papers
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Johnsen C et al.
Molecular Genetics and Metabolism, 2024
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.
Losfeld ME et al.
Human Molecular Genetics, 2014
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