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Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots

✍ Scribed by Kate E. Bendall; Vincent A. Macaulay; Bryan C. Sykes

Book ID
117852231
Publisher
American Society of Human Genetics
Year
1997
Tongue
English
Weight
248 KB
Volume
61
Category
Article
ISSN
0002-9297

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A novel heteroplasmic point mutation in
A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring
✍ Massoud Houshmand; Christopher Lindberg; Ali-Reza Moslemi; Anders Oldfors; Elisa πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 459 KB πŸ‘ 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