Article
Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.
The Journal of biological chemistry - 22 Jul 1994
Hayashi J, Ohta S, Kagawa Y, Takai D, Miyabayashi S, Tada K, Fukushima H, Inui K, Okada S, Goto Y
Abstract excerpt
mtDNA with a point mutation in the tRNA(Ile) gene at nucleotide position 4269 found in a patient with fatal cardiomyopathy and mtDNA with a point mutation in the tRNA(Arg) gene at 10410 found in a patient with Alpers disease were transferred cytoplasmically to rho zero HeLa cells (HeLa cells lacking mtDNA) to determine whether these novel mtDNA mutations in the tRNA genes are responsible for the defects in...
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