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 mandatory to give guidance for the diagnosis and monitoring of this deficiency. METHODS: A new approach for performing...
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