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Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

BACKGROUND & OBJECTIVES: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not a...

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Detalles Bibliográficos
Autores principales:	Vanaja, Maria Celestina, Jain, Jamal Mohammed Nurul, Dalal, Ashwin, Ranganath, Prajnya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2023
Materias:	Practice: Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466493/ https://www.ncbi.nlm.nih.gov/pubmed/37530313 http://dx.doi.org/10.4103/ijmr.IJMR_2707_20

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