Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine β-synthase gene in great apes
✍ Scribed by Maurizio Romano; Maria Giulia Bacalini; Ernst J. Verschoor; Sergio Crovella; Francisco E. Baralle
- Book ID
- 113620564
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 482 KB
- Volume
- 582
- Category
- Article
- ISSN
- 0014-5793
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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
Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278T) in the cystathionine beta-synthase (__CBS__) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. However, the frequency of the pathogenic c.833C allele, as observed in health