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 "diagnost...

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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: Encarnação, Marisa (author), Matos, Liliana (author), Silva, Lisbeth (author), Ribeiro, Diogo (author), Santos, Juliana Inês (author), Prata, Maria João (author), Vilarinho, Laura (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2020
Subjects:
Lysosomal Storage Disorders
Functional Studies
Mucopolysaccharidosis Type VI
Next-generation Sequencing
MPS VI
Gene ARSB
Doenças Genéticas
Doenças Lisossomais de Sobrecarga
Mutações de Splicing
Mucopolissacaridoses
Online Access:http://hdl.handle.net/10400.18/6457
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6457

Internet

http://hdl.handle.net/10400.18/6457

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