(Q76367580)

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Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6

scientific article published on 01 March 2004

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23 November 2019

Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6 (English)

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Europe PubMed Central

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23 November 2019

Marisel De Lucca

1

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23 November 2019

author name string

Liliana Casique

2

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publication date

1 March 2004

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23 November 2019

Molecular Genetics and Metabolism

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23 November 2019

81

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23 November 2019

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23 November 2019

209-215

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23 November 2019

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation

1 reference

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7 January 2021

Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection

1 reference

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7 January 2021

A rapid procedure for extracting genomic DNA from leukocytes

1 reference

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7 January 2021

Presence of the Mediterranean PKU mutation IVS10 in Latin America

1 reference

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7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.12.003

7 January 2021

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

1 reference

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7 January 2021

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.12.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.12.003

7 January 2021

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

1 reference

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7 January 2021

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.12.003

7 January 2021

Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study

1 reference

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7 January 2021

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

1 reference

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7 January 2021

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.

1 reference

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7 January 2021

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

1 reference

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7 January 2021

Cystathionine beta-synthase mutations in homocystinuria

1 reference

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7 January 2021

CpG-rich islands and the function of DNA methylation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.12.003

7 January 2021

Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase

1 reference

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7 January 2021

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2003.12.003

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Europe PubMed Central

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23 November 2019

1 reference

Europe PubMed Central

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23 November 2019

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