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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Short Report
Acesso em linha: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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