Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

• Main Authors: Chkioua Latifa (Author), Khedhiri Souhir (Author), Ferchichi Salima (Author), Miled Abdelhedi (Author), Laradi Sandrine (Author)
• Format: Book
• Published: BMC, 2011-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p/> <p>Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. At least, 148 mutations and 16 polymorphi...