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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    1
    1. ClingenBaseline 25 Oct 2026
      740delC

      Case#: Family 18, Slovenia

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that "Hurler form is characterized by skeletal abnormalities, hepatosplenomegaly and severe mental retardation" but is not specific to this patient.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: The α-L-iduronidase enzyme activities in leucocytes from all patients in the study was measured using the artificial substrate 4-methylumbelliferyl α-L iduronide (Sigma). Values ranged from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) and did not correlate to the clinical phenotype.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.652delC; c.740delC in the paper (old nomenclature)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586965939

      Variant2: c.652delC; c.740delC in the paper (old nomenclature)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586965939

      AdditionalVariants: N/A

      ParentalGenotype: Parental testing conducted, each parent was shown to carry one of the sequence changes found in their affected child.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA2586965939 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/11735025/