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Contribution of de novo point mutations to the overall mutational burden in mitochondrial DNA of adult rats

โœ Scribed by M. Khaidakov; N. Chavannes-Turesky; C.A. Cooney; E.E. Dupont-Versteegden; R.H. Kennedy; E.R. Siegel; G. Khaidakova; R.J. Shmookler Reis


Book ID
113614627
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
160 KB
Volume
40
Category
Article
ISSN
0531-5565

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A novel heteroplasmic point mutation in
โœ Massoud Houshmand; Christopher Lindberg; Ali-Reza Moslemi; Anders Oldfors; Elisa ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 459 KB ๐Ÿ‘ 2 views

We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control