Chargement en cours...
Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity
Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Pasteur Institute of Iran
2012
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3629929/ https://ncbi.nlm.nih.gov/pubmed/23023219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6091/ibj.1049.2012 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|