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

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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Bibliographic Details
Main Authors: Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
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)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.770350/full

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