Folate pathway gene alterations in patients with neural tube defects

American Journal of Medical Genetics

Volumn 95, Issue 3, 2000, Pages 216-223

  De Marco, Patrizia ^a   Moroni, Anna ^a   Merello, Elisa ^a   De Franchis, Raffaella ^b   Andreussi, Luciano ^a   Finnell, Richard H ^c   Barber, Robert C ^c   Cama, Armando ^a   Capra, Valeria ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Folate receptors; Folic acid; Neural tube defects

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLATE RECEPTOR; FOLIC ACID; HOMOCYSTEINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DIET SUPPLEMENTATION; EXON; FEMALE; FOLATE METABOLISM; GENE CONVERSION; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC RISK; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; NEURAL TUBE DEFECT; PATHOGENESIS; PRIORITY JOURNAL; PSEUDOGENE; RECURRENCE RISK;

3' UNTRANSLATED REGIONS; BASE SEQUENCE; BLOTTING, SOUTHERN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOLIC ACID; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURAL TUBE DEFECTS; OPEN READING FRAMES; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; RISK FACTORS; SEQUENCE ALIGNMENT;

EID: 0034722837     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001127)95:3<216::AID-AJMG6>3.0.CO;2-F     Document Type: Article

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