Article
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects.
European journal of human genetics : EJHG - 1 Jul 2002
Afman Lydia A, Lievers Karin J A, van der Put Nathalie M J, Trijbels Frans J M, Blom Henk J
Abstract excerpt
Homocysteine levels are elevated in mothers of neural tube defect (NTD) children, which may be due to a disturbed folate or vitamin B12 metabolism. Vitamin B12 is transported to the tissues by transcobalamin (TC). We previously showed that a low holo-TC/total-TC ratio is a risk factor for NTD, possibly due to an impaired binding of vitamin B12 to TC. The coding region of the TC gene of 12 individuals was analysed...
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