(Q73459713)

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Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing

scientific article published on 01 December 2000

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scholarly article

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4 November 2019

Variable number tandem repeat in exon/intron border of the cystathionine beta-synthase gene: a single nucleotide substitution in the second repeat prevents multiple alternate splicing (English)

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4 November 2019

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F Yang

1

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4 November 2019

N Q Hanson

2

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4 November 2019

K Schwichtenberg

3

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4 November 2019

M Y Tsai

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4 November 2019

publication date

1 December 2000

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4 November 2019

American Journal of Medical Genetics Part A

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4 November 2019

95

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4 November 2019

4

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4 November 2019

385-390

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4 November 2019

Serum total homocysteine and coronary heart disease

1 reference

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21 January 2018

Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

1 reference

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21 January 2018

A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease

1 reference

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21 January 2018

Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.

1 reference

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21 January 2018

Hyperhomocysteinemia: an independent risk factor for vascular disease

1 reference

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21 January 2018

Prospective study of coronary heart disease incidence in relation to fasting total homocysteine, related genetic polymorphisms, and B vitamins: the Atherosclerosis Risk in Communities (ARIC) study.

1 reference

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21 January 2018

Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation

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21 January 2018

Characterization of Mutations in the Cystathionine β-Synthase Gene in Irish Patients with Homocystinuria

1 reference

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21 January 2018

Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project.

1 reference

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21 January 2018

Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria

1 reference

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21 January 2018

A common 844INS68 insertion variant in the cystathionine beta-synthase gene

1 reference

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21 January 2018

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

1 reference

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21 January 2018

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

1 reference

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21 January 2018

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

1 reference

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21 January 2018

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

1 reference

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21 January 2018

Plasma homocysteine levels and mortality in patients with coronary artery disease

1 reference

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21 January 2018

Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?

1 reference

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21 January 2018

Association between Plasma Homocysteine Concentrations and Extracranial Carotid-Artery Stenosis

1 reference

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21 January 2018

Simultaneous detection and screening of T833C and G919A mutations of the cystathionine β-synthase gene by single-strand conformational polymorphism

1 reference

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21 January 2018

Identification of a Splice Site Mutation in the Cystathionine β-Synthase Gene Resulting in Variable and Novel Splicing Defects of Pre-mRNA

1 reference

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21 January 2018

Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases.

1 reference

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21 January 2018

Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum

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21 January 2018

Identifiers

10.1002/1096-8628(20001211)95:4<385::AID-AJMG16>3.0.CO;2-V

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186895%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11186895%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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