Title : Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Pub. Date : 2004 Jul

PMID : 15210164






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Genetic analysis identified a novel, heteroplasmic, A to G transition in tRNA(Ser(UCN)) at position 7480 affecting a highly conserved base in the anticodon loop. Serine urocortin Homo sapiens
2 This is the eighth disease-causing mutation in this tRNA gene and confirms serine (UCN) as one of the most common sites for mtDNA mutation. Serine urocortin Homo sapiens