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Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

✍ Scribed by Leo A. J. Kluijtmans; Henk J. Blom; Godfried H. J. Boers; Bernard A. Oost; Frans J. M. Trijbels; Lambert P. W. J. Heuvel

Publisher
Springer
Year
1995
Tongue
English
Weight
160 KB
Volume
96
Category
Article
ISSN
0340-6717

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Homocystinuria due to cystathionine b-synthase (CBS) deficiency is frequently caused by missense mutations. In this article, we report four novel missense mutations in the CBS gene: 172C®T (R58W) linked in cis with A114V; 376A®G (M126V); 904G®A (E302K); and 1006C®T (R336C). The CBS activity of the c