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Article

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.

European journal of human genetics : EJHG - 1 Mar 2009

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

Abstract excerpt

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 betahCG serum concentrations are commonly used for screening Down syndrome. AFP deficiency is rare (estimated to be 1/105,000 newborns) and only one sequence alteration has previously been reported in the AFP gene. We report a new mutation in exon 5...

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Identifiers

PMID: 18854864
DOI: 10.1038/ejhg.2008.186
PMCID: PMC2986178

Genes

AFP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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