Article
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Genetic testing and molecular biomarkers - 1 Mar 2021
Zehravi Mehwish, Wahid Mohsin, Ashraf Junaid, Fatima Tehseen
Abstract excerpt
Background: Muscular dystrophies are a heterogeneous group of inherited disorders that cannot be diagnosed clinically due to overlapping clinical phenotypes. Whole-exome sequencing is considered as the diagnostic strategy of choice in these cases. In this study we aimed to determine the mutational spectrum of multiplex ligation-dependent probe amplification (MLPA)-negative muscular dystrophy patients in Pakistan...
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