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MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase

✍ Scribed by Sabine Bröker; Brigitte Meunier; Peter Rich; Norbert Gattermann; Götz Hofhaus


Book ID
114429468
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
277 KB
Volume
258
Category
Article
ISSN
1432-1327

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m.6267G>A: a recurrent mutation in the h
✍ M. Esther Gallardo; Raquel Moreno-Loshuertos; Celia López; Mercedes Casqueiro; J 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

Complete sequencing of the mitochondrial genome of 13 cell lines derived from a variety of human cancers revealed nine novel mitochondrial DNA (mtDNA) variations. One of them, m.6267G>A, is a recurrent mutation that introduces the Ala122Thr substitution in the mitochondrially encoded cytochrome c ox