Article
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
Journal of inherited metabolic disease - 1 Jan 2005
Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick R J
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme alpha-L-iduronidase (IDUA). The disease has severe and milder phenotypic subtypes. The IDUA mutations in five MPS I patients from three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons and intron-exon junctions. Two novel...
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