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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

✍ Scribed by Keightley, J. Andrew; Hoffbuhr, Kristen C.; Burton, Miriam D.; Salas, Virginia M.; Johnston, Wendy S.W.; Penn, Andrew M.W.; Buist, Neil R.M.; Kennaway, Nancy G.


Book ID
109915730
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
999 KB
Volume
12
Category
Article
ISSN
1061-4036

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m.6267G>A: a recurrent mutation in the h
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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