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Mucopolysaccharidosis IVA (MPS IVA; OMIM#253000) is a lysosomal storage disorder caused by a deficiency of N -acetylgalactosamine-6-sulfate sulfatase (GALNS). To determine the correlation between genotype and clinical phenotype authors studied 17 missense mutations using biochemical approaches and 32 missense mutations, using structural analyses.

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This page is a summary of: Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes, Human Molecular Genetics, May 2000, Oxford University Press (OUP),
DOI: 10.1093/hmg/9.9.1283.
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