Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

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 disease cou...

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Détails bibliographiques
Publié dans:Genet Mol Biol
Auteurs principaux: Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, de Souza, Carolina F.M, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto
Format: Artigo
Langue:Inglês
Publié: Sociedade Brasileira de Genética 2019
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687342/
https://ncbi.nlm.nih.gov/pubmed/30985853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0092
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