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Literature summary for 1.5.1.3 extracted from

  • van der Linden, I.J.; Nguyen, U.; Heil, S.G.; Franke, B.; Vloet, S.; Gellekink, H.; den Heijer, M.; Blom, H.J.
    Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida (2007), Mol. Genet. Metab., 91, 98-103.
    View publication on PubMed
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Application

Application Comment Organism
medicine screening for the 19-bp deletion and the 9-bp repeat in dihydrolfolate reductase gene of 121 mothers of a spina bifida affected child, 109 spina bifida patients, 292 control women and 234 pediatric controls. The 19-bp del/del genotype is not associated with spina bifida risk in mothers and children and both the WT/del and the del/del genotype do not aVect expression relative to the WT/WT genotype. The 9-bp repeat is not associated with spina bifida risk in mothers and children. Expression of the 6/6 allele is 73% increased compared to the 3/3 allele, although not significantly Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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 mothers of a spina bifida affected child, spina biWda patients, and controls
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