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Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes

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1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
  
  PMID: 8213840
  
  Gene: IDUA
  
  Disease: MPS1
  
  Inheritance: Autosomal recessive
  
  Gene: IDUA inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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IDUA variant annotation

inferred_gene_source:Gene_Name

Gene: IDUA

inferred_gene_hgnc:5391

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ClingenBaseline

URL

pmc.ncbi.nlm.nih.gov/articles/PMC1682315/