Next Generation Sequencing and Lysosomal Dysfunction: Novel mutations associated with Neurodegenerative disorders.

Lysosomal Storage Disorders (LSD) are a group of inherited metabolic diseases characterized by a wide range in phenotypes and clinical variability. The diagnosis is often difficult and time consuming, with multiple tests/samples being required before a definitive diagnosis is reached. Next Generatio...

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Detalhes bibliográficos
Autor principal: Encarnação, Marisa (author)
Outros Autores: Coutinho, Maria Francisca (author), Matos, Liliana (author), Silva, Lisbeth (author), Ribeiro, Diogo (author), Nogueira, Célia (author), Vilarinho, Laura (author), Alves, Sandra (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Next Generation Sequencing
Lysosomal Storage Disorders
NGS
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/6367
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6367

Texto Completo

http://hdl.handle.net/10400.18/6367

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