A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases

With over 60 different disorders and a combined incidence occurring in 1:5000–7000 live births, lysosomal storage diseases (LSDs) represent a major public health problem and constitute an enormous burden for affected individuals and their families. Several reasons make the diagnosis of LSDs an arduo...

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Detalles Bibliográficos
Autores principales: La Cognata, Valentina, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617937/
https://www.ncbi.nlm.nih.gov/pubmed/34828358
http://dx.doi.org/10.3390/genes12111750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8617937/
https://www.ncbi.nlm.nih.gov/pubmed/34828358
http://dx.doi.org/10.3390/genes12111750

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