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

Volumn 17, Issue 3, 2009, Pages 387-390

  Petit, François M ^a   Hébert, Marylise ^a   Picone, Olivier ^a   Brisset, Sophie ^a   Maurin, Marie Laure ^a   Parisot, Frédéric ^a   Capel, Liliane ^a   Benattar, Clarisse ^a   Sénat, Marie Victoire ^a   Tachdjian, Gérard ^a   Labrune, Philippe ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ALBUMIN; ALPHA FETOPROTEIN; DNA; GUANINE;

ADULT; AMNIOCENTESIS; AMNION FLUID; ARTICLE; CASE REPORT; DNA EXTRACTION; DOWN SYNDROME; ELECTROPHORESIS; EXON; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC SCREENING; HOMOZYGOTE; HUMAN; MALE; MATERNAL SERUM; NEWBORN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SECOND TRIMESTER PREGNANCY; STOP CODON;

ALPHA-FETOPROTEINS; BASE SEQUENCE; CASE-CONTROL STUDIES; DOWN SYNDROME; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS;

EID: 60749124941     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.186     Document Type: Article

References (9)

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