Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene

Author:

Chassé Jean-François,Barouki Robert

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Clinical Biochemistry,Molecular Biology,General Medicine

Reference27 articles.

1. Finkelstein JD, Martin JJ (2000) Homocysteine. Int J Biochem Cell Biol 32(4):385–389

2. Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G (1995) The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet 56(6):1324–1333

3. Sperandeo MP, de Franchis R, Andria G, Sebastio G (1996) A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA. Am J Hum Genet 59(6):1391–1393

4. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ (1996) High prevalence of a mutation in the cystathionine beta-synthase gene. Am J Hum Genet 59(6):1262–1267

5. Gaustadnes M, Ingerslev J, Rutiger N (1999) Prevalence of congenital homocystinuria in Denmark. N Engl J Med 340(19):1513

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