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Expression study of mutant cystathionine β-synthase found in Japanese patients with homocystinuria

✍ Scribed by Fumio Katsushima; Jana Oliveriusova; Osamu Sakamoto; Toshihiro Ohura; Yoshiaki Kondo; Kazuie Iinuma; Eva Kraus; Renata Stouracova; Jan P. Kraus


Book ID
116987747
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
236 KB
Volume
87
Category
Article
ISSN
1096-7192

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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