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https://pubmed.ncbi.nlm.nih.gov/12682337/
A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients....
gene mutation
pigmentary retinopathy
mitochondrial
trna
causing