Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI—Indirect proof of principle on its pathogenicity

1. Coutinho, M.F.
2. Encarnação, M.
3. Matos, L.
4. Silva, L.
5. Ribeiro, D.
6. Santos, J.I.
7. João Prata, M.
8. Vilarinho, L.
9. Alves, S.

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DOI: 10.3390/DIAGNOSTICS10020058 GOOGLE SCHOLAR lock_openAcceso aberto editor

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Fonte de datos: Scopus