Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the cells. Although biochemical enzymatic assays are considered the gold standard f...

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Detalles Bibliográficos
Autores principales: La Cognata, Valentina, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405548/
https://www.ncbi.nlm.nih.gov/pubmed/36009380
http://dx.doi.org/10.3390/biomedicines10081836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405548/
https://www.ncbi.nlm.nih.gov/pubmed/36009380
http://dx.doi.org/10.3390/biomedicines10081836

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