Article
Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
Biochemical and biophysical research communications - 15 May 1991
Yoon K L, Aprille J R, Ernst S G
Abstract excerpt
The mitochondrial DNA (mtDNA) of two unrelated infants with lethal respiratory chain defects was studied using denaturing gradient gel analysis. This analysis revealed melting behavior differences suggesting a point mutation(s) in a restriction fragment containing the apocytochrome b and tRNA(thr) genes. Sequencing revealed that patient 1 had an A to G mutation at nt 15924 which is the last base pair of the...
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