Title : Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.

Pub. Date : 2002 Dec

PMID : 12442278






1 Functional Relationships(s)
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1 The deficiency of N-acetylgalactosamine-6-sulfate sulfatase leads to lysosomal accumulation of undegraded glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. Glycosaminoglycans galactosamine (N-acetyl)-6-sulfatase Homo sapiens