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

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 “dia...

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Bibliographic Details
Main Authors: Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, Lisbeth Silva, Diogo Ribeiro, Juliana Inês Santos, Maria João Prata, Laura Vilarinho, Sandra Alves
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Diagnostics
Subjects:
mucopolysaccharidosis type vi (mps vi)
lysosomal storage disorders (lsds)
next-generation sequencing (ngs)
splicing mutation
functional studies
Online Access:https://www.mdpi.com/2075-4418/10/2/58

Internet

https://www.mdpi.com/2075-4418/10/2/58

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