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

Author:

De Lucca Marisel,Casique Liliana

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Disorders of transsulfuration;Mudd,2001

2. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T→C mutation;Gaustadnes;Arterioscler. Thromb. Vasc. Biol.,2000

3. Laboratory Techniques for the Detection of Hereditary Metabolic Disorders;Shih,1973

4. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection;Araki;J. Chromatogr.,1987

5. A rapid procedure for extracting genomic DNA from leukocytes;John;Nucleic Acids Res.,1991

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