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Literature summary for 1.5.1.20 extracted from

  • Strauss, K.A.; Morton, D.H.; Puffenberger, E.G.; Hendrickson, C.; Robinson, D.L.; Wagner, C.; Stabler, S.P.; Allen, R.H.; Chwatko, G.; Jakubowski, H.; Niculescu, M.D.; Mudd, S.H.
    Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency (2007), Mol. Genet. Metab., 91, 165-175.
    View publication on PubMed
Search for more literature for 1.5.1.20

Protein Variants

Protein Variants Comment Organism
additional information the C1129T gene polymorphism leads to severe MTHFR deficiency which is associated with brain disease Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
5,10-methylenetetrahydrofolate reductase
-
 Homo sapiens
MTHFR
-
 Homo sapiens