MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

Abstract Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods We used the combination of multiplex ligation‐dependent probe amplifica...

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Bibliographic Details
Main Authors: María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Becker muscular dystrophy
Duchenne muscular dystrophy
molecular diagnosis
multiple ligation probe amplification
targeted Next Generation Sequencing
Online Access:https://doi.org/10.1002/mgg3.1759

Internet

https://doi.org/10.1002/mgg3.1759

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