Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene
| Autor: | Gottwald, I., Hughes, J., Stewart, F., Tylee, K., Church, H., Jones, S.A. |
|---|---|
| Zdroj: | In Molecular Genetics and Metabolism 2011 103(3):300-302 |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|
Full Text from ScienceDirect