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
Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction.
Koblan LW et al.
Nature Biotechnology, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
Schenk B et al.
The Journal of Clinical Investigation, 2001
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