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Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.

Prenatal diagnosis - 1 Apr 2016

Parks Michael, Court Samantha, Cleary Siobhan, Clokie Samuel, Hewitt Julie, Williams Denise, Cole Trevor, MacDonald Fiona, Griffiths Mike, Allen Stephanie

Abstract excerpt

OBJECTIVE: Development of an accurate and affordable test for the non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice. METHOD: Cell-free DNA was extracted from maternal blood and prepared for massively parallel sequencing on an Illumina MiSeq by targeted capture enrichment of single nucleotide polymorphisms (SNPs) across the dystrophin gene on...

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Identifiers

PMID: 26824862
DOI: 10.1002/pd.4781
PMCID: PMC4864947

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DMD

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