Article
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Human mutation - 1 Aug 2002
Gaustadnes Mette, Wilcken Bridget, Oliveriusova Jana, McGill Jim, Fletcher Janice, Kraus Jan P, Wilcken David E
Abstract excerpt
Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, and thromboembolism. We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region...
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