Simultaneous detection and screening of
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Michael Y. Tsai; Naomi Q. Hanson; Michelle K. Bignell; Kerry A. Schwichtenberg
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Article
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1996
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Elsevier Science
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English
⚖ 606 KB
Objective: We used single-,'~trand conformational polymorphism (SSCP) to screen for mutations at nucleotides 833 and 919 of the cystathionine ~-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 pri