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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

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