Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-savi...

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Autores principales:	Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	next generation sequencing (NGS) multiplex ligation-dependent probe amplification (MLPA) duchenne muscular dystrophy (DMD) becker muscular dystrophy (BMD) limb-girdle muscular dystrophies congenital muscular dystrophies (CMDs) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/025c76eb055f49bcbb585df93cbd9868
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Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

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