Article
Variation and expression of dihydrofolate reductase (DHFR) in relation to spina bifida.
Molecular genetics and metabolism - 1 May 2007
van der Linden Ivon J M, Nguyen Uyen, Heil Sandra G, Franke Barbara, Vloet Suzanne, Gellekink Henkjan, den Heijer Martin, Blom Henk J
Abstract excerpt
The dihydrofolate reductase (DHFR) enzyme is important for folate availability, folate turnover and DNA synthesis. The 19-bp deletion in intron-1 of DHFR has been associated with the risk of having spina bifida affected offspring, supposedly by changing DHFR gene expression. A 9-bp repeat in exon 1 of the mutS homolog 3 (MSH3) gene was recently demonstrated to be also located in the 5'UTR of DHFR and may possibly...
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