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Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine β-synthase deficiency

✍ Scribed by Lars Brattström; Bo Israelsson; Folke Lindgärde; Björn Hultberg


Book ID
119471591
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
535 KB
Volume
37
Category
Article
ISSN
1532-8600

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Screening for mutations by expressing pa
✍ Viktor Kožich; Jan P. Kraus 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 972 KB

## Communicated by Davd Valk Deficiency of cystathionine P-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals. Portions of patient cDNAs were amplified by PCR and