Methods for detecting human methylenetetrahydrofolate reductase allelic variants
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United States of America Patent
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Mar 4, 2003
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app pub date -
Sep 13, 2000
filing date -
May 26, 1994
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Abstract
Provided herein is a heretofore unknown isolated nucleic acid molecule which encodes human methylenetetrahydrofolate reducatase, along with an amino acid sequence of methylenetetrahydrofolate reductase, and a cDNA probe for human methylenetetrahydrofolate reductase. Also provided are a molecule description of mutations in humans resulting in a phenotype having reduced levels of methylenetetrahydrofolate reductase, and methods of diagnosing methylenetetrahydrofolate reductase deficiency in a human.
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