IDUA
Gene name: iduronidase, alpha-L-OMIM ID: 252800
Chromosome location: 4p16.3
Mutations
| Disease/Phenotype | Mucopolysaccharidosis IH (Hurler syndrome) |
|---|---|
| Reference transcript | NM_000203.3 |
| DNA Change | c.1598C>G |
| A.A. Change | p.Pro533Arg |
| Exon/Intron | exon 11 |
| Mutation Type | substitution |
| Reference | Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B.Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. Ann Hum Genet. 1999 Jan;63(Pt 1):9-16. |