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

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 Illu...

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Detalles Bibliográficos
Autores principales: Parks, Michael, Court, Samantha, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864947/
https://www.ncbi.nlm.nih.gov/pubmed/26824862
http://dx.doi.org/10.1002/pd.4781

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