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Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia
BACKGROUND: The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, noninvasive prenatal detection of chromosome aneuploidy and single base variation h...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696090/ https://www.ncbi.nlm.nih.gov/pubmed/23840709 http://dx.doi.org/10.1371/journal.pone.0067464 |