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Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene

1 Jan 2007

Abstract excerpt

Sulfatases catalyze the hydrolysis of sulfate ester bonds from a wide variety of substrates and are implicated in several human inherited diseases. Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disorder characterized by the simultaneous deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene encoding the alpha-formylglycine generating...

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PMID: 17657823
DOI: 10.1002/humu.9504

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Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 genePMID 17657823Read ↗

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