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Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background materna...

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Detalles Bibliográficos
Autores principales: Vermeulen, Carlo, Geeven, Geert, de Wit, Elzo, Verstegen, Marjon J.A.M., Jansen, Rumo P.M., van Kranenburg, Melissa, de Bruijn, Ewart, Pulit, Sara L., Kruisselbrink, Evelien, Shahsavari, Zahra, Omrani, Davood, Zeinali, Fatemeh, Najmabadi, Hossein, Katsila, Theodora, Vrettou, Christina, Patrinos, George P., Traeger-Synodinos, Joanne, Splinter, Erik, Beekman, Jeffrey M., Kheradmand Kia, Sima, te Meerman, Gerard J., Ploos van Amstel, Hans Kristian, de Laat, Wouter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590845/
https://www.ncbi.nlm.nih.gov/pubmed/28844486
http://dx.doi.org/10.1016/j.ajhg.2017.07.012