Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome

• Main Authors: Latifa Chkioua (Author), Hela Boudabous (Author), Ibtissem Jaballi (Author), Oussama Grissa (Author), Hadhami Ben Turkia (Author), Neji Tebib (Author), Sandrine Laradi (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler-Scheie syndrome and attenuated Scheie syn...