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cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression

✍ Scribed by Petra Zavadáková; Brian Fowler; Terttu Suormala; Zorka Novotna; Peter Mueller; Julia B. Hennermann; Jiří Zeman; M. Antonia Vilaseca; Laura Vilarinho; Sven Gutsche; Ekkehard Wilichowski; Gerd Horneff; Viktor Kožich


Book ID
102259245
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
69 KB
Volume
26
Category
Article
ISSN
1059-7794

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cblE Type of homocystinuria due to methi
✍ Petra Zavadáková; Brian Fowler; Terttu Suormala; Zorka Novotna; Peter Mueller; J 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 241 KB

The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might be activated by two different reducing systems, mutations were reported in on