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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Sprog: | English |
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Sociedade Brasileira de Genética
2019-04-01
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| Serier: | Genetics and Molecular Biology |
| Fag: | |
| Online adgang: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005013102&lng=en&tlng=en |