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

• Main Authors: Froissart Roseline (Author), Ferchichi Salima (Author), Bibi Amina (Author), Kassab Asma (Author), Khedhiri Souhir (Author), Chkioua Latifa (Author), Vianey-Saban Christine (Author), Laradi Sandrine (Author), Miled Abdelhedi (Author)
• Format: Book
• Published: BMC, 2011-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...