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Mutation of E2F2 in Mice Causes Enhanced T Lymphocyte Proliferation, Leading to the Development of Autoimmunity

✍ Scribed by Matilde Murga; Oskar Fernández-Capetillo; Seth J. Field; Bernardino Moreno; Luis R.-Borlado; Yuko Fujiwara; Dimitrios Balomenos; Alberto Vicario; Ana C. Carrera; Stuart H. Orkin; Michael E. Greenberg; Ana M. Zubiaga


Book ID
117723162
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
643 KB
Volume
15
Category
Article
ISSN
1074-7613

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The deep intronic c.903+469T>C mutation
✍ Katerina Homolova; Petra Zavadakova; Thomas Koed Doktor; Lisbeth Dahl Schroeder; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB

Deep intronic mutations are often ignored as possible causes of human diseases. A deep intronic mutation in the MTRR gene, c.9031469T4C, is the most frequent mutation causing the cblE type of homocystinuria. It is well known to be associated with pre-mRNA missplicing, resulting in pseudoexon inclusi