A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels

European Journal of Human Genetics

Volumn 9, Issue 8, 2001, Pages 583-589

  Lievers, Karin J A ^a   Kluijtmans, Leo A J ^a   Heil, Sandra G ^a   Boers, Godfried H J ^a   Verhoef, Petra ^b   Van Oppenraay Emmerzaal, Dinny ^a   Den Heijer, Martin ^a   Trijbels, Frans J M ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WAGENINGEN UNIVERSITY   (Netherlands)

Author keywords

Cardiovascular disease; Cystathionine sythase (CBS); Homocysteine; Hyperhomocysteinaemia; VNTR

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; DNA; HOMOCYSTEINE; METHIONINE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BLOOD LEVEL; CARDIOVASCULAR RISK; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME METABOLISM; EXON; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERHOMOCYSTEINAEMIA; INTRON; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VARIABLE NUMBER OF TANDEM REPEAT; VASCULAR DISEASE;

ALLELES; ALTERNATIVE SPLICING; ARTERIAL OCCLUSIVE DISEASES; CONSENSUS SEQUENCE; CYSTATHIONINE BETA-SYNTHASE; ENZYME ACTIVATION; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HOMOCYSTEINE; HUMANS; INTRONS; MALE; MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 0034882142     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200679     Document Type: Article

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