High prevalence of the I278T mutation of the human cystathionine β-synthase detected by a novel screening application

Thrombosis and Haemostasis

Volumn 85, Issue 6, 2001, Pages 986-988

  Linnebank, M ^a   Homberger, A ^a   Junker, R ^a   Nowak Goettl, U ^a   Harms, E ^a   Koch, H G ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Cystathionine synthase; Homocysteine; Homocystinuria; Mutation screening

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; GERMANY; HETEROZYGOSITY; HIGH RISK PATIENT; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; METABOLIC DISORDER; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; THROMBOEMBOLISM; VASCULAR DISEASE;

EID: 0034971293     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1615951     Document Type: Article

References (14)

1. The natural history of homocystinuria due to cystathionine beta-synthase deficiency
2. Newborn screening for homocystinuria: Irish and world experience
3. Disorders of transsulfuration
4. The molecular basis of cystathionine β-synthase deficiency in Dutch patients with homocystinuria: Effect of CBS genotype on biochemical and clinical phenotype and on response to treatment
5. Cystathionine beta-synthase mutations in homocystinuria
6. High prevalence of a mutation in the cystathionine β-synthase gene
7. A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA
8. Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?
9. Screening for mutations by expressing patients cDNA segments in E. coli: Homocystinuria due to cystathionine beta-synthase deficiency
10. Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method
11. The human cystathionine β-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
12. Familial thrombophilia associated with homozygosity for the cystathionine β-synthase 833T>C mutation
13. Prevalence of congenital homocystinuria in Denmark
14. Functional modeling of vitamin responsiveness in yeast: A common pyridoxine-responsive cystathionine β-synthase mutation in homocystinuria