Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants

Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an import...

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Detalhes bibliográficos
Autor principal: Encarnação, Marisa (author)
Outros Autores: Coutinho, Maria Francisca (author), Silva, Lisbeth (author), Ribeiro, Diogo (author), Ouesleti, Souad (author), Campos, Teresa (author), Santos, Helena (author), Martins, Esmeralda (author), Cardoso, Maria Teresa (author), Vilarinho, Laura (author), Alves, Sandra (author)
Formato: article
Idioma:eng
Publicado em: 2021
Assuntos:
CLN7
GM2 Gangliosidosis
GM2A gene
bioinformatics analysis
diagnostics odyssey
lysosomal storage diseases (LSDs)
molecular genetic testing (MGT)
next-generation sequencing (NGS)
Texto completo:http://hdl.handle.net/10400.16/2650
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2650

Texto Completo

http://hdl.handle.net/10400.16/2650

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