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

• Hoofdauteurs: Froissart Roseline (Auteur), Ferchichi Salima (Auteur), Bibi Amina (Auteur), Kassab Asma (Auteur), Khedhiri Souhir (Auteur), Chkioua Latifa (Auteur), Vianey-Saban Christine (Auteur), Laradi Sandrine (Auteur), Miled Abdelhedi (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2011-04-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...