In this article, one of the novel mutations, c.208_209+ 8del10, was incorrectly given as c.69_70+8del10.
View Article and Find Full Text PDFClassical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.
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