The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase

Human Mutation

Volumn 16, Issue 2, 2000, Pages 132-138

  Goyette, Philippe ^a   Rozen, Rima ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Folate; Homocystinuria; Methylenetetrahydrofolate reductase; MTHFR

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID; HOMOCYSTEINE;

ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; GENE MUTATION; HOMOCYSTINURIA; HUMAN; MISSENSE MUTATION; NEURAL TUBE DEFECT; PRIORITY JOURNAL; RISK FACTOR; VASCULAR DISEASE;

BACTERIA (MICROORGANISMS);

EID: 0033852873     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T     Document Type: Article

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