Title : A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

Pub. Date : 2007 Oct

PMID : 17614276






1 Functional Relationships(s)
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1 Direct sequencing showed a heteroplasmic mutation at nucleotide 7506 in the dihydrouridine stem of the tRNA(Ser(UCN)) gene. 5,6-dihydrouridine urocortin Homo sapiens