Article
Simultaneous detection and screening of T833C and G919A mutations of the cystathionine beta-synthase gene by single-strand conformational polymorphism.
Clinical biochemistry - 1 Oct 1996
Tsai M Y, Hanson N Q, Bignell M K, Schwichtenberg K A
Abstract excerpt
OBJECTIVE: We used single-strand conformational polymorphism (SSCP) to screen for mutations at nucleotides 833 and 919 of the cystathionine beta-synthase (CBS) gene in 13 patients with homocystinuria and 11 of their relatives. METHODS: Exon 8 of genomic DNA was selectively amplified by PCR using primers derived from intronic sequences of the human CBS gene. SSCP analysis was performed on the amplified products....
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