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Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect

✍ Scribed by Y. T. Bliksrud; E. Brodtkorb; P. A. Andresen; I. E. T. van den Berg; E. A. Kvittingen

Publisher
Springer
Year
2005
Tongue
English
Weight
223 KB
Volume
83
Category
Article
ISSN
0946-2716

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✍ Jane D. Filie; Bonnie M. Orrison; Qin Wang; Mary Beth Lewis; Joan C. Marini 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 839 KB

Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained