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

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 polymorphisms were identified in the GALNS gene. The aim o...

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Detalles Bibliográficos
Autores principales: Khedhiri, Souhir, Chkioua, Latifa, Ferchichi, Salima, Miled, Abdelhedi, Laradi, Sandrine
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034659/
https://www.ncbi.nlm.nih.gov/pubmed/21251309
http://dx.doi.org/10.1186/1746-1596-6-11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034659/
https://www.ncbi.nlm.nih.gov/pubmed/21251309
http://dx.doi.org/10.1186/1746-1596-6-11

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