Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the di...
| Principais autores: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Sociedade Brasileira de Genética
2019-04-01
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| coleção: | Genetics and Molecular Biology |
| Assuntos: | |
| Acesso em linha: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005013102&lng=en&tlng=en |