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Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia

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  1. Article

    Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

    Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and ...

    Shunji Tomatsu, Tatiana Dieter, Ida V. Schwartz… in Journal of Human Genetics (2004)

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