Article
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
Molecular genetics and metabolism - 1 Mar 2004
De Lucca Marisel, Casique Liliana
Abstract excerpt
This study describes for the first time the cystathionine beta-synthase (CBS) gene mutations in Venezuelan patients. A total of five disease-causing mutations were identified in 9 out of 10 independent chromosomes. Four of the mutations have been previously described (G85R, T191M, D234N, and D444N) and a novel mutation was found (Q243X). Two common polymorphisms (699C/T and 1080C/T) were found in the CBS gene....
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