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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Biomedicines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/10/8/1836 |