Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

• Váldodahkkit: Froissart Roseline (Dahkki), Ferchichi Salima (Dahkki), Bibi Amina (Dahkki), Kassab Asma (Dahkki), Khedhiri Souhir (Dahkki), Chkioua Latifa (Dahkki), Vianey-Saban Christine (Dahkki), Laradi Sandrine (Dahkki), Miled Abdelhedi (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2011-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

<p>Abstract</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic...