What is it about?
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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Resources
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
Open Access version
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro
Hum Gene Ther (2001); 12(16): 2007-16. doi: 10.1089/104303401753204571.
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