Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR

American Journal of Human Genetics

Volumn 59, Issue 6, 1996, Pages 1268-1275

  Goyette, Philippe ^b   Christensen, Benedicte ^b   Rosenblatt, David S ^b   Rozen, Rima ^a  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; DNA; HOMOCYSTEINE; METHIONINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HYBRIDIZATION; INFANT; MALE; MISSENSE MUTATION; NEURAL TUBE DEFECT; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION SITE; RISK FACTOR; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ALANINE; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POINT MUTATION; VALINE;

EID: 0029847109     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Boushey C, Beresford SAA, Omenn GS, Motulsky AG (1995) A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA 274:1049-1057
2. Christensen B, Frosst P, Lussier-Cacan S, Selhub J, Goyette P, Rosenblatt DS, Genest J Jr, et al. Correlation of a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene with plasma homocysteine in patients with premature coronary artery disease. Arterioscler Thromb Vasc Biol (in press)
3. Erbe RW (1986) Inborn errors of folate metabolism. In: Blakley RL, Whitehead VM (eds) Folates and pterins. Vol 3: Nutritional, pharmacological, and physiological aspects. Wiley, New York, pp 413-465
4. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113
5. Goyette P, Frosst P, Rosenblatt DS, Rozen R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56:1052-1059