Title : Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Pub. Date : 2013 Mar

PMID : 23401410






1 Functional Relationships(s)
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1 Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate. Chondroitin Sulfates galactosamine (N-acetyl)-6-sulfatase Homo sapiens