Cargando...
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...
Gardado en:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2011
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3034659/ https://ncbi.nlm.nih.gov/pubmed/21251309 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-11 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|