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Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)

INTRODUCTION: Numerous pathogenic mutations responsible for mitochondrial diseases have been identified in mitochondrial DNA (mtDNA)-encoded tRNA genes. In most cases, however, the detailed molecular pathomechanisms and cellular pathophysiology of these mtDNA mutations —how such genetic defects dete...

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Detalles Bibliográficos
Autores principales:	Hatakeyama, Hideyuki, Katayama, Ayako, Komaki, Hirofumi, Nishino, Ichizo, Goto, Yu-ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546323/ https://www.ncbi.nlm.nih.gov/pubmed/26297375 http://dx.doi.org/10.1186/s40478-015-0227-x

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