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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease‐causing variants

OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both t...

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Detalles Bibliográficos
Autores principales: Jeppesen, Line Dahl, Lildballe, Dorte Launholt, Hatt, Lotte, Hedegaard, Jakob, Singh, Ripudaman, Toft, Christian Liebst Frisk, Schelde, Palle, Pedersen, Anders Sune, Knudsen, Michael, Vogel, Ida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10107343/
https://www.ncbi.nlm.nih.gov/pubmed/36447355
http://dx.doi.org/10.1002/pd.6276