A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis

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Guissart, Claire; Tran Mau Them, Frédéric; Debant, Vanessa; Viart, Victoria; Dubucs, Charlotte; Pritchard, Victoria; Rouzier, Cécile; Boureau-Wirth, Amandine; Haquet, Emmanuelle; Puechberty, Jacques; Bieth, Eric; Khau Van Kien, Philippe; Brechard, Marie-Pierre; Raynal, Caroline; Girardet, Anne; Claustres, Mireille; Koenig, Michel; Vincent, Marie-Claire;
  • Publisher: Karger
  • Identifiers: doi: 10.1159/000489776
  • Subject: Cell-free fetal DNA | Cystic fibrosis | Haplotyping | Multiplex PCR | Noninvasive prenatal diagnosis | p.Phe508del | [SDV]Life Sciences [q-bio]

International audience; BACKGROUND:Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a u... View more
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