Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine β-synthase gene

The developed PCR-RFLP method is able to detect the 833T>C mutation, the 833T>C/844ins68 polymorphism as well as a new 9276G>A mutation in intron 8. Further study should explore the effect of the isolated 9276G>A mutation.