Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders

<b>Background:</b> Multiplex Ligation Probe Amplification (MLPA) is a widely used technique for the diagnosis of lysosomal storage diseases (LSDs). It analyses over 40 DNA sequences in a single reaction, identifying copy number variations and large deletions/insertions in genes. The diag...

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Main Authors: Martina Vinci, Carmela Zizzo, Marta Moschetti, Miriam Giacomarra, Monia Anania, Giulia Duro, Tiziana Di Chiara, Maria Russo, Elisa Messina, Paolo Colomba, Giovanni Duro
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Biomedicines
Subjects:
MLPA
lysosomal storage disease
Fabry disease
Gaucher disease
Pompe disease
Online Access:https://www.mdpi.com/2227-9059/13/4/973
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