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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Bibliographic Details
Main Author: Encarnação, Marisa (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2021
Subjects:
CLN7
GM2 Gangliosidosis
GM2A gene
bioinformatics analysis
diagnostics odyssey
lysosomal storage diseases (LSDs)
molecular genetic testing (MGT)
next-generation sequencing (NGS)
Online Access:http://hdl.handle.net/10400.16/2650
Country:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2650

Internet

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

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