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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

15 Nov 2019

Abstract excerpt

OBJECTIVE: To investigate the distribution of cytosine-guanine dinucleotide (CpG) sites with a variable level of DNA methylation of the D4Z4 macrosatellite element in patients with facioscapulohumeral dystrophy (FSHD). METHODS: By adapting bisulfite modification to deep sequencing, we performed a comprehensive analysis of D4Z4 methylation across D4Z4 repeats and adjacent 4qA sequence in DNA from patients with...

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PMID: 31872053
DOI: 10.1212/nxg.0000000000000372

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