Article
C677T single nucleotide polymorphisms of the human methylene tetrahydrofolate reductase and specific identification : a novel strategy using two-color cross-correlation fluorescence spectroscopy.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2003
Földes-Papp Zeno, Kinjo Masataka, Saito Kenta, Kii Hiroaki, Takagi Takuya, Tamura Mamoru, Costa Jean M, Birch-Hirschfeld Eckhard, Demel Ulrike, Thyberg Per, Tilz Gernot P
Abstract excerpt
BACKGROUND: A methylene tetrahydrofolate reductase (MTHFR) deficiency at site C677T renders the enzyme thermolabile and consequently represents a risk factor for vascular disease, neural tube defects, preeclampsia, and thrombosis. Highly specific identification techniques for genotyping are manda...
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