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Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA

โœ Scribed by M.G. Hanna; I.P. Nelson; S. Rahman; R.J.M. Lane; J. Land; S. Heales; M.J. Cooper; A.H.V. Schapira; J.A. Morgan-Hughes; N.W. Wood


Book ID
117852458
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
202 KB
Volume
63
Category
Article
ISSN
0002-9297

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m.6267G>A: a recurrent mutation in the h
โœ M. Esther Gallardo; Raquel Moreno-Loshuertos; Celia Lรณpez; Mercedes Casqueiro; J ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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