Associated Papers
Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis.
Wei Z et al.
The Journal of Dermatology, 2025
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
Kranz C et al.
The Journal of Clinical Investigation, 2001
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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