A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome

Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and βhCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105 000 newborns) an...

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Dades bibliogràfiques
Autors principals: Petit, François M, Hébert, Marylise, Picone, Olivier, Brisset, Sophie, Maurin, Marie-Laure, Parisot, Frédéric, Capel, Liliane, Benattar, Clarisse, Sénat, Marie-Victoire, Tachdjian, Gérard, Labrune, Philippe
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986178/
https://ncbi.nlm.nih.gov/pubmed/18854864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.186
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