Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects

American Journal of Medical Genetics

Volumn 100, Issue 1, 2001, Pages 25-29

  Shashi, Vandana ^a   Rickheim, Amy ^a   Pettenati, Mark J ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

Folic acid; Homocysteine; Methylenetetrahydrofolate reductase; Transverse terminal limb defect

Indexed keywords

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

ARTICLE; CASE REPORT; DIET SUPPLEMENTATION; FEMALE; FOLATE METABOLISM; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; LIMB DEFECT; NEURAL TUBE DEFECT; PRIORITY JOURNAL; RISK FACTOR;

FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; RISK FACTORS;

EID: 0035871962     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1186     Document Type: Article

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