A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
In: Molecular genetics & genomic medicine, Jg. 8 H. 9
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
In: Cell Reports, Jg. 24 H. 1, S. 27-37.e4