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Article

Mitochondrial tRNA mutations: clinical and functional perturbations.

RNA biology - 1 Jan 2000

Zifa Emily, Giannouli Stamatina, Theotokis Paschalis, Stamatis Costas, Mamuris Zissis, Stathopoulos Constantinos

Abstract excerpt

During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes and their products have emerged as novel and essential molecular markers for wide biochemical and genetic screenings among different human populations. So far, 139 pathogenic and 243...

Topics

Genotype
Humans
Mitochondrial Diseases
Mutation
Nucleic Acid Conformation
Phenotype
Polymorphism, Genetic
RNA
RNA, Mitochondrial
RNA, Transfer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17617745
DOI: 10.4161/rna.4.1.4548

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