Immortalization and characterization of a cell line exhibiting a severe multiple sulphatase deficiency phenotype.

Abstract excerpt

Multiple sulphatase deficiency (MSD) is a rare genetic defect that causes a simultaneous deficiency of all known sulphatases. All available evidence suggests that the deficient gene product is normally responsible for the post-translational modification of a conserved cysteine residue to 2-amino-3-oxopropionic acid and that this modification is necessary for sulphatase activity. MSD often has an enzymically mild...

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