Methods for detecting human methylenetetrahydrofolate reductase allelic variants
US6528259B1 · kind B1 · utility
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2References
52Claims
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Key dates
| Filing date | Sep 13, 2000 |
| Grant date | Mar 4, 2003 |
| Priority date | — |
| Expiry date | Sep 13, 2020 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
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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