Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity
- Coutinho, M.F.
- Encarnação, M.
- Matos, L.
- Silva, L.
- Ribeiro, D.
- Santos, J.I.
- João Prata, M.
- Vilarinho, L.
- Alves, S.
Journal:
Diagnostics
ISSN: 2075-4418
Year of publication: 2020
Volume: 10
Issue: 2
Type: Article