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Literature summary for 3.2.1.76 extracted from

  • Liu, D.; Jiang, Z.; Deng, L.; Li, H.; Jiang, H.
    Identification of an alpha-L-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I (2023), Ann. N. Y. Acad. Sci., 1526, 114-125.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
M1T the mutation is identified in a Chinese family with autosomal recessive mucopolysaccharidosis I Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P35475
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-

Synonyms

Synonyms Comment Organism
alpha-L-iduronidase
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Homo sapiens
IDUA
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Homo sapiens