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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Detalhes bibliográficos
Autor principal: Coutinho, Maria Francisca (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
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
Texto completo:http://hdl.handle.net/10400.18/6457
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6457

Texto Completo

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

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