Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity

Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic od...

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Detalles Bibliográficos
Autores principales: Coutinho, Maria Francisca, Encarnação, Marisa, Matos, Liliana, Silva, Lisbeth, Ribeiro, Diogo, Santos, Juliana Inês, Prata, Maria João, Vilarinho, Laura, Alves, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168280/
https://www.ncbi.nlm.nih.gov/pubmed/31973102
http://dx.doi.org/10.3390/diagnostics10020058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168280/
https://www.ncbi.nlm.nih.gov/pubmed/31973102
http://dx.doi.org/10.3390/diagnostics10020058

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