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    Molecular genetic assay of mucopolysaccharidosis IVA in South China
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    1. ClingenBaseline 23 Oct 2026
      Patients

      GroupPresentingHPOs: only shared phenotype was reduced GALNS activity in leukocytes

      GroupGenotypingMethod: Sanger seq of amplified exons

      NumberMales: 15

      NumberFemales: 6

      NumberFamilies: 19

      CountryOrigin: China

      AgeRange: 1yo to 7.8yo

      TotalNumber: 21

      FamilyInfo:19 families, siblings P1 and P2, P3 and P4, parents were studied for segregation info

      VariantCount: 15

      Gene: GALNS GroupInfo GroupPhenotypes inferred_gene_hgnc:4122 inferred_gene_source:Gene_Name UNC Biocuration Core
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0378111913011724