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Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia
2021
Journal of Inborn Errors of Metabolism and Screening
Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population without clinical and molecular diagnosis of MPS. An observational descriptive study was carried out where the allelic frequency of variants presents in the IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, GLB1, ARSB, GUSB, HYAL1 genes was determined by means of the
doi:10.1590/2326-4594-jiems-2021-0021
fatcat:bxvlvulvfzhajdwh4gyoiattd4